ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val)

gnomAD frequency: 0.00632  dbSNP: rs114292876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204007 SCV000260292 benign Jeune thoracic dystrophy 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000604485 SCV000728846 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 RCV001285251 SCV001471652 benign Asphyxiating thoracic dystrophy 3 2020-08-24 criteria provided, single submitter clinical testing

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