ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) (rs2230896)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252104 SCV000319369 benign Cardiovascular phenotype 2015-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344429 SCV000347860 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000344429 SCV000631686 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000614003 SCV000719743 benign not specified 2017-08-15 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000344429 SCV001158780 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-09-03 criteria provided, single submitter clinical testing

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