ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1782-5C>T

gnomAD frequency: 0.00113  dbSNP: rs200103145
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721358 SCV000530848 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464572 SCV000563201 benign Charcot-Marie-Tooth disease dominant intermediate B 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000428244 SCV001159765 benign not specified 2018-08-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000428244 SCV001880112 benign not specified 2021-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411377 SCV002714903 likely benign Inborn genetic diseases 2020-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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