ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.540G>A (p.Gln180=) (rs35958757)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000318266 SCV000347851 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-04-28 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 RCV000318266 SCV000631725 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000616105 SCV000714094 benign not specified 2016-12-21 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.
Ambry Genetics RCV000618546 SCV000738352 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000318266 SCV001158779 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2019-03-28 criteria provided, single submitter clinical testing

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