ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)

gnomAD frequency: 0.00583  dbSNP: rs41281013
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508323 SCV000604880 benign Bone fragility with contractures, arterial rupture, and deafness 2023-09-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514263 SCV000610861 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV000514263 SCV001096212 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000508323 SCV002809561 likely benign Bone fragility with contractures, arterial rupture, and deafness 2022-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514263 SCV004162771 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLOD3: BP4, BS2

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