ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=) (rs751526144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711538 SCV000841916 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV001087068 SCV001011276 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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