ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) (rs149964491)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619155 SCV000738409 likely benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177591 SCV000229489 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000177591 SCV000249750 likely benign not specified 2017-02-16 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 RCV000539010 SCV000631473 benign Ehlers-Danlos syndrome, classic type 2018-01-05 criteria provided, single submitter clinical testing

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