ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.48C>T (p.Ala16=)

gnomAD frequency: 0.00002  dbSNP: rs930193305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721414 SCV000533260 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505115 SCV004279336 likely benign Brugada syndrome 6 2024-12-12 criteria provided, single submitter clinical testing

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