ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)

gnomAD frequency: 0.00003  dbSNP: rs561339487
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862366 SCV001002862 benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001597223 SCV001831802 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363212 SCV002661442 likely benign Inborn genetic diseases 2020-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Revvity Omics, Revvity RCV001597223 SCV004237829 likely benign not provided 2023-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001597223 SCV004699602 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DYNC1H1: PP2, BP4, BS1

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