ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) (rs139229616)

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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 RCV000618196 SCV000738693 benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc RCV000659488 SCV000781304 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000195752 SCV000249990 likely benign not specified 2017-03-08 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 RCV000226278 SCV000284818 likely benign Ehlers-Danlos syndrome, classic type 2017-12-29 criteria provided, single submitter clinical testing

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