ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1887G>T (p.Gln629His)

gnomAD frequency: 0.00001  dbSNP: rs777262223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483252 SCV000573048 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Invitae RCV002063822 SCV002395294 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-06 criteria provided, single submitter clinical testing

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