ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) (rs567600444)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386515 SCV000373910 uncertain significance Smith-Lemli-Opitz syndrome 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory,University of Chicago RCV000503164 SCV000594361 uncertain significance not specified 2016-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717252 SCV000848101 uncertain significance History of neurodevelopmental disorder 2016-10-25 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731830 SCV000859683 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000386515 SCV000894663 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000386515 SCV001053027 likely benign Smith-Lemli-Opitz syndrome 2019-12-31 criteria provided, single submitter clinical testing

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