ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1883+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005013802 SCV005642682 likely pathogenic Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 2024-01-09 criteria provided, single submitter clinical testing

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