ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) (rs12574626)

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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 RCV000374915 SCV000366817 benign Short-rib thoracic dysplasia 3 with or without polydactyly 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000292170 SCV000366818 benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000442037 SCV000516334 benign not specified 2016-03-29 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 RCV000292170 SCV001000561 benign Jeune thoracic dystrophy 2019-12-31 criteria provided, single submitter clinical testing

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