ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)

dbSNP: rs151255069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173862 SCV001336978 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002068096 SCV002463670 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-06-16 criteria provided, single submitter clinical testing

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