ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.1773+15T>C

gnomAD frequency: 0.00012  dbSNP: rs199958255
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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 RCV002119136 SCV002445494 likely benign not provided 2024-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494412 SCV002796733 likely benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-10-11 criteria provided, single submitter clinical testing

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