ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.2190C>T (p.Ser730=)

gnomAD frequency: 0.00002  dbSNP: rs778033301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408639 SCV001610643 likely benign not provided 2023-04-06 criteria provided, single submitter clinical testing

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