ClinVar Miner

Submissions for variant NM_005911.6(MAT2A):c.318G>T (p.Val106=)

gnomAD frequency: 0.00215  dbSNP: rs72940560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698360 SCV000534388 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21813468)
Invitae RCV000532687 SCV000658892 benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323654 SCV002610842 benign Cardiovascular phenotype 2019-03-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323541 SCV004028980 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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