ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.264C>T (p.Ile88=)

gnomAD frequency: 0.00019  dbSNP: rs749839151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862506 SCV001003020 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000862506 SCV001911695 benign not provided 2019-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000862506 SCV004698750 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CLCN4: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000862506 SCV005207951 likely benign not provided criteria provided, single submitter not provided

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