ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) (rs149959668)

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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 RCV000124461 SCV000603170 benign not specified 2016-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244499 SCV000319848 benign Cardiovascular phenotype 2016-01-08 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),Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
GeneDx RCV000124461 SCV000167894 benign not specified 2013-11-01 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 RCV000260729 SCV000478583 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459775 SCV000559966 benign Ehlers-Danlos syndrome, classic type 2017-09-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124461 SCV000302226 benign not specified criteria provided, single submitter clinical testing

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