ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2107+11A>G

dbSNP: rs189093520
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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 RCV002176377 SCV002478614 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481016 SCV002794659 likely benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-10-08 criteria provided, single submitter clinical testing

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