ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)

gnomAD frequency: 0.11417  dbSNP: rs12926089
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251178 SCV000307619 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251178 SCV000342273 benign not specified 2016-06-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338192 SCV000395021 likely benign Osteopetrosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516365 SCV001724635 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001516365 SCV001880919 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16234969, 16120485)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277138 SCV002564670 benign Increased bone mineral density 2022-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516365 SCV005216910 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000055845 SCV000086841 not provided Autosomal recessive osteopetrosis 4 no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251178 SCV001744153 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251178 SCV001952887 benign not specified no assertion criteria provided clinical testing

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