ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) (rs72989738)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000432686 SCV000603399 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000432686 SCV000516393 benign not specified 2016-09-09 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.
Invitae RCV000457809 SCV000557936 benign Jeune thoracic dystrophy 2017-07-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000432686 SCV000539055 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, gene associated with Jeune syndrome

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