ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)

gnomAD frequency: 0.00008  dbSNP: rs200339812
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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 RCV000546338 SCV000651660 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000711539 SCV000728188 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711539 SCV000841917 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172878 SCV001335951 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711539 SCV004184427 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DYNC1H1: BP4, BP7

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