ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) (rs376248130)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302593 SCV000478555 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000434210 SCV000512707 benign not specified 2016-04-18 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.
Ambry Genetics RCV000620445 SCV000738620 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000634690 SCV000756024 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing

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