ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=)

gnomAD frequency: 0.00002  dbSNP: rs145320071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609163 SCV000724119 likely benign not specified 2017-10-31 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 RCV000862597 SCV001003122 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325167 SCV002611057 benign Inborn genetic diseases 2019-05-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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