ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.270C>T (p.Leu90=)

gnomAD frequency: 0.00001  dbSNP: rs771528043
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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 RCV000872660 SCV001014511 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing

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