ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.741+7G>A

gnomAD frequency: 0.00001  dbSNP: rs751215041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612781 SCV000722013 likely benign not specified 2017-08-14 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.
Invitae RCV000902404 SCV001046825 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945499 SCV004758799 likely benign PLOD1-related condition 2019-11-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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