ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.996C>T (p.Asp332=) (rs144763302)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254112 SCV000319753 likely benign Cardiovascular phenotype 2015-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Center for Human Genetics, Inc RCV000680502 SCV000807886 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000197255 SCV000706278 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000197255 SCV000249779 benign not specified 2014-09-17 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 RCV000314504 SCV000478518 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229492 SCV000283508 benign Ehlers-Danlos syndrome, classic type 2017-01-19 criteria provided, single submitter clinical testing

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