ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1986G>A (p.Pro662=)

gnomAD frequency: 0.00136  dbSNP: rs117761436
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890104 SCV001033830 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000300 SCV001156976 benign Bone fragility with contractures, arterial rupture, and deafness 2020-01-20 criteria provided, single submitter clinical testing

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