ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.699C>T (p.Gly233=)

gnomAD frequency: 0.00001  dbSNP: rs751844947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474419 SCV000553367 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365665 SCV002665405 likely benign Inborn genetic diseases 2019-07-11 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.
Revvity Omics, Revvity RCV003144276 SCV003830515 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing

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