ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) (rs12146610)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756050 SCV000883760 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000422430 SCV000516392 benign not specified 2016-04-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000273416 SCV000366603 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330752 SCV000366604 likely benign Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000273416 SCV000557935 benign Jeune thoracic dystrophy 2016-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000422430 SCV000539052 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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