ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.*1906C>A

dbSNP: rs9729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262137 SCV000378883 benign Vitamin D-dependent rickets type II with alopecia 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.
Breakthrough Genomics, Breakthrough Genomics RCV004706976 SCV005230630 benign not provided criteria provided, single submitter not provided
Genetics Laboratory, Lanzhou University RCV003992269 SCV004812004 benign Periodontitis 2023-04-20 no assertion criteria provided case-control

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