ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)

gnomAD frequency: 0.00001  dbSNP: rs779241319
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616214 SCV000722912 likely benign not specified 2017-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088173 SCV001020195 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2025-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000877456 SCV001143767 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420623 SCV002721598 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.
Breakthrough Genomics, Breakthrough Genomics RCV000877456 SCV005208233 likely benign not provided criteria provided, single submitter not provided

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