ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=)

gnomAD frequency: 0.00153  dbSNP: rs115357531
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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 RCV002087522 SCV002329464 benign not provided 2024-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494009 SCV002802239 likely benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002087522 SCV003916974 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SLC12A2: BP4, BP7

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