ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) (rs17301028)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000319173 SCV000366581 likely benign Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373826 SCV000366582 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000425517 SCV000516375 benign not specified 2016-05-09 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000425517 SCV000539051 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
Invitae RCV000857347 SCV000557934 benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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