ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1071C>T (p.Asp357=)

gnomAD frequency: 0.00002  dbSNP: rs376875762
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470296 SCV000559830 likely benign Charcot-Marie-Tooth disease type 2 2023-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517349 SCV000614023 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001696854 SCV000718339 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180576 SCV001345535 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418463 SCV002718958 likely benign Cardiovascular phenotype 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000517349 SCV004029933 likely benign not specified 2023-07-22 criteria provided, single submitter clinical testing

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