ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)

dbSNP: rs2142378398
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814660 SCV002061394 likely pathogenic Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 2021-06-01 criteria provided, single submitter clinical testing PS2, PM2

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