ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) (rs148430780)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757125 SCV000885247 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251436 SCV000320159 likely benign Cardiovascular phenotype 2015-09-06 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659481 SCV000781296 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177967 SCV000229934 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000177967 SCV000167938 benign not specified 2013-12-30 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 RCV000309555 SCV000425637 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462959 SCV000558993 benign Ehlers-Danlos syndrome, classic type 2017-12-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000177967 SCV000303988 likely benign not specified criteria provided, single submitter clinical testing

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