ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) (rs2230898)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756553 SCV000884389 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621904 SCV000738309 benign Cardiovascular phenotype 2015-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000251663 SCV000525663 benign not specified 2016-10-05 no assertion criteria provided 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 RCV000334136 SCV000347877 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251663 SCV000303546 benign not specified criteria provided, single submitter clinical testing

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