ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=)

gnomAD frequency: 0.00016  dbSNP: rs371700719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002155636 SCV002429656 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500096 SCV002804602 likely benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2022-04-12 criteria provided, single submitter clinical testing

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