ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) (rs41306397)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198362 SCV000249771 likely benign not specified 2017-10-25 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 RCV001000026 SCV000283482 likely benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000198362 SCV000302175 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331914 SCV000478501 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000026 SCV000603183 likely benign Ehlers-Danlos syndrome, classic type 2018-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618746 SCV000738332 likely benign Cardiovascular phenotype 2018-12-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000198362 SCV000854878 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001000026 SCV001327900 benign Ehlers-Danlos syndrome, classic type 2018-02-06 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.

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