ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.141+19C>G

gnomAD frequency: 0.00082  dbSNP: rs547168471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509649 SCV001716476 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501743 SCV002811418 likely benign Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 2021-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001509649 SCV005297090 benign not provided criteria provided, single submitter not provided

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