ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)

dbSNP: rs750249796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198310 SCV001369194 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2019-08-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198310 SCV001559237 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580122 SCV001809763 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580122 SCV001971769 uncertain significance not provided no assertion criteria provided clinical testing

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