ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.676-86C>G

dbSNP: rs8060503
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544082 SCV001763055 benign Hypopigmentation, organomegaly, and delayed myelination and development 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544083 SCV001763056 benign Autosomal dominant osteopetrosis 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544084 SCV001763057 benign Autosomal recessive osteopetrosis 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001638150 SCV001850114 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638150 SCV005297065 benign not provided criteria provided, single submitter not provided

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