ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) (rs115480556)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757194 SCV000885332 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000602673 SCV000714443 benign not specified 2017-07-03 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 RCV000393092 SCV000366863 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311028 SCV000366864 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000393092 SCV000755500 benign Jeune thoracic dystrophy 2017-09-14 criteria provided, single submitter clinical testing

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