ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12514-5A>G

gnomAD frequency: 0.00001  dbSNP: rs774476953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335827 SCV001529068 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2018-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001335827 SCV002427964 likely benign Charcot-Marie-Tooth disease axonal type 2O 2021-10-21 criteria provided, single submitter clinical testing

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