ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) (rs34781844)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244034 SCV000317312 likely benign Cardiovascular phenotype 2015-05-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000384960 SCV000425544 likely benign Ehlers-Danlos syndrome, type 4 2018-08-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000384960 SCV000554700 benign Ehlers-Danlos syndrome, type 4 2020-11-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771758 SCV000904416 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858537 SCV001153234 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285640 SCV001472106 benign none provided 2019-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000858537 SCV001942827 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000858537 SCV001807830 likely benign not provided no assertion criteria provided clinical testing

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