ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)

gnomAD frequency: 0.00078  dbSNP: rs140879834
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762470 SCV000892792 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000762470 SCV001040598 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002170 SCV001160030 likely benign Bone fragility with contractures, arterial rupture, and deafness 2018-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947965 SCV004764316 benign PLOD3-related condition 2020-02-18 criteria provided, single submitter 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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