ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) (rs143859495)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724350 SCV000231929 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000197081 SCV000249925 likely benign not specified 2018-01-08 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.
Invitae RCV001000409 SCV000559987 likely benign Ehlers-Danlos syndrome, classic type 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617392 SCV000738567 likely benign Cardiovascular phenotype 2018-02-22 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659465 SCV000781280 uncertain significance Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000409 SCV001157206 likely benign Ehlers-Danlos syndrome, classic type 2018-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001000409 SCV001330726 benign Ehlers-Danlos syndrome, classic type 2017-07-11 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Blueprint Genetics RCV000157147 SCV000206870 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-09-17 no assertion criteria provided clinical testing

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