ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=)

gnomAD frequency: 0.00019  dbSNP: rs34287672
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697494 SCV000720024 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Invitae RCV000861175 SCV001001417 benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-13 criteria provided, single submitter clinical testing

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