ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.660C>T (p.His220=)

gnomAD frequency: 0.14578  dbSNP: rs12923538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248830 SCV000307627 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280202 SCV000395034 benign Osteopetrosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001520630 SCV001729778 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520630 SCV001905155 benign not provided 2018-08-07 criteria provided, single submitter clinical testing

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