ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.871T>C (p.Leu291=)

gnomAD frequency: 0.00004  dbSNP: rs373785409
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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 RCV000865762 SCV001006779 likely benign not provided 2023-08-14 criteria provided, single submitter clinical testing

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