ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.921G>A (p.Val307=) (rs147975335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260899 SCV000427474 likely benign Cholestanol storage disease 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000260899 SCV001102781 benign Cholestanol storage disease 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000956039 SCV001144859 benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000260899 SCV001462723 benign Cholestanol storage disease 2019-11-22 no assertion criteria provided clinical testing

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