ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) (rs7551175)

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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 RCV000755362 SCV000604856 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618024 SCV000738310 benign Cardiovascular phenotype 2015-01-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177032 SCV000228844 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000177032 SCV000521253 benign not specified 2016-10-04 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 RCV000276149 SCV000347847 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000177032 SCV000303548 benign not specified criteria provided, single submitter clinical testing

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