Table 2 Actionable secondary findings variants identified secondarily in ≥5 participants.

From: Frequency of genomic secondary findings among 21,915 eMERGE network participants

Gene

DNA change

Protein consequence

Interpretation

Participant count

rsID

ClinVar variant ID

BRCA2

c.5946del

p.Ser1982Argfs*22

P

17

rs80359550

9325

MYBPC3

c.3628–41_3628–17del

Splice

LP

13

rs36212066

177677

APOB

c.10580G>A

p.Arg3527Gln

P

12

rs5742904

17890

BRCA1

c.68_69del

p.Glu23Valfs*17

P

9

rs80357914

17662

RET

c.2410G>A

p.Val804Met

P

7

rs79658334

37102

KCNQ1

c.1085A>G

p.Lys362Arg

LP

6

rs12720458

52953

MYBPC3

c.1504C>T

p.Arg502Trp

P

6

rs375882485

42540

PMS2

c.137G>T

p.Ser46Ile

P

5

rs121434629

9245

RYR1

c.1840C>T

p.Arg614Cys

LP/Pa

5

rs118192172

12964

PKP2

c.2146–1G>C

Splice

P

5

rs193922674

6756

  1. LP likely pathogenic, P pathogenic.
  2. aSequencing centers differ in their interpretation of this variant.
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