ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2005+9T>C

gnomAD frequency: 0.00071  dbSNP: rs10463502
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078963 SCV002424880 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494332 SCV002796630 benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-08-16 criteria provided, single submitter clinical testing

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