ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr)

dbSNP: rs2116397081
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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 RCV001366695 SCV001563008 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-08-27 criteria provided, single submitter clinical testing

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