ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=)

gnomAD frequency: 0.00476  dbSNP: rs76833922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205922 SCV000260291 benign Jeune thoracic dystrophy 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000607958 SCV000714438 benign not specified 2017-03-29 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286038 SCV001472556 benign Asphyxiating thoracic dystrophy 3 2020-04-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706662 SCV005232648 benign not provided criteria provided, single submitter not provided

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