ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4419T>C (p.Tyr1473=)

gnomAD frequency: 0.00001  dbSNP: rs747519168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607867 SCV000727525 likely benign not specified 2018-02-16 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 RCV001396272 SCV001597999 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392451 SCV004130453 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DYNC1H1: BP4, BP7

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