ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) (rs61736827)

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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 RCV000225711 SCV000603175 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621048 SCV000738569 likely benign Cardiovascular phenotype 2016-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724380 SCV000232909 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000225711 SCV000249785 benign not specified 2014-09-03 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 RCV000382468 SCV000478528 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230638 SCV000283474 benign Ehlers-Danlos syndrome, classic type 2017-10-14 criteria provided, single submitter clinical testing

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