ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.-4G>A

gnomAD frequency: 0.00173  dbSNP: rs79161810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173585 SCV000224709 likely benign not specified 2015-03-10 criteria provided, single submitter clinical testing
GeneDx RCV001535422 SCV000714803 likely benign not provided 2025-02-10 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003947464 SCV004768804 benign PLOD2-related disorder 2019-12-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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