ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe)

dbSNP: rs139158852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University RCV001837017 SCV001786713 likely pathogenic Batten-Turner congenital myopathy 2021-08-15 criteria provided, single submitter clinical testing

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