ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala)

gnomAD frequency: 0.00499  dbSNP: rs149585221
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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 RCV002132332 SCV002404294 benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500036 SCV002810688 benign Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002132332 SCV004700517 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing SLC12A2: BS1

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