ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) (rs115570272)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755498 SCV000603208 benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245807 SCV000319708 benign Cardiovascular phenotype 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000124499 SCV000167932 benign not specified 2013-04-15 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 RCV000342810 SCV000425649 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233849 SCV000284809 benign Ehlers-Danlos syndrome, classic type 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124499 SCV000303976 benign not specified criteria provided, single submitter clinical testing

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