ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.261C>T (p.Ser87=)

gnomAD frequency: 0.00068  dbSNP: rs543480974
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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 RCV002099848 SCV002325227 benign not provided 2024-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494005 SCV002796519 likely benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2022-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553643 SCV004785886 likely benign SLC12A2-related disorder 2023-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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