ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.570C>T (p.Asp190=)

gnomAD frequency: 0.02885  dbSNP: rs35159414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507249 SCV000604873 benign Bone fragility with contractures, arterial rupture, and deafness 2023-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001712572 SCV001939058 benign not provided 2019-12-03 criteria provided, single submitter clinical testing
Invitae RCV001712572 SCV002335118 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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