ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) (rs79377186)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000145366 SCV000314194 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406006 SCV000457389 benign Joubert syndrome 17 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424537 SCV000510630 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000145366 SCV000517128 benign not specified 2016-05-23 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.
Invitae RCV001081622 SCV000647816 benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000145366 SCV000192445 likely benign not specified no assertion criteria provided clinical testing

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