ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)

gnomAD frequency: 0.00019  dbSNP: rs75113705
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649599 SCV000771428 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-10-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174004 SCV001337124 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001779035 SCV002015611 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001779035 SCV005878294 likely benign not provided 2024-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937958 SCV004765667 likely benign DYNC1H1-related disorder 2019-03-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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