ClinVar Miner

Submissions for variant NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser)

gnomAD frequency: 0.10059  dbSNP: rs17003955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521903 SCV001731323 benign Brugada syndrome 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230494 SCV003928357 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713953 SCV005277868 benign not provided criteria provided, single submitter not provided

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