ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9960G>T (p.Ala3320=)

dbSNP: rs746026558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193970 SCV000247230 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517931 SCV002930194 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-05-13 criteria provided, single submitter clinical testing

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