ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.573C>T (p.Leu191=) (rs116715381)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246811 SCV000319408 likely benign Cardiovascular phenotype 2015-01-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124478 SCV000340892 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000124478 SCV000167911 benign not specified 2013-03-28 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 RCV000278708 SCV000478506 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463013 SCV000559992 benign Ehlers-Danlos syndrome, classic type 2017-12-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124478 SCV000302244 benign not specified criteria provided, single submitter clinical testing

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