ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)

gnomAD frequency: 0.00004  dbSNP: rs750353606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649557 SCV000771386 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-14 criteria provided, single submitter clinical testing
GeneDx RCV002260655 SCV002540373 uncertain significance not provided 2022-06-13 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; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093)

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