ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) (rs111294536)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000193857 SCV000229307 likely benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193857 SCV000249452 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351552 SCV000411669 likely benign Primary autosomal recessive microcephaly 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000193857 SCV000515265 likely benign not specified 2017-12-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000714196 SCV000844883 benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000714196 SCV001037430 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000714196 SCV001500174 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing

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