ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) (rs201166370)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620156 SCV000738617 likely benign Cardiovascular phenotype 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000199495 SCV000336131 benign not specified 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000199495 SCV000249780 benign not specified 2015-04-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000260767 SCV000478520 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459091 SCV000559989 benign Ehlers-Danlos syndrome, classic type 2017-11-16 criteria provided, single submitter clinical testing

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