ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=)

gnomAD frequency: 0.00005  dbSNP: rs373496930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697425 SCV000715055 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Invitae RCV003528205 SCV004302038 benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-20 criteria provided, single submitter clinical testing

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