ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) (rs140154194)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711529 SCV000722652 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711529 SCV000841907 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001081409 SCV001002754 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-10-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711529 SCV001334502 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing

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