ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8772-12G>A

gnomAD frequency: 0.00003  dbSNP: rs368192451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698480 SCV000727494 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Invitae RCV002064306 SCV002457846 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-28 criteria provided, single submitter clinical testing

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