ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7565C>T (p.Thr2522Met)

gnomAD frequency: 0.00001  dbSNP: rs528647293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494385 SCV000581749 uncertain significance not provided 2020-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001360458 SCV001556374 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-04-07 criteria provided, single submitter clinical testing

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