ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.4302C>T (p.Pro1434=) (rs755495352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507121 SCV000603184 likely benign not specified 2017-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000507121 SCV000722204 likely benign not specified 2017-08-23 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 RCV000620481 SCV000738666 likely benign Cardiovascular phenotype 2017-09-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000866089 SCV001007138 likely benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing

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