ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs751526144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711538 SCV000841916 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087068 SCV001011276 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711538 SCV001748426 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000711538 SCV002027843 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing

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