ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1179C>T (p.Ala393=)

gnomAD frequency: 0.00779  dbSNP: rs11546152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999780 SCV000604875 benign Bone fragility with contractures, arterial rupture, and deafness 2023-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000506522 SCV001108183 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000506522 SCV004162770 benign not provided 2022-11-01 criteria provided, single submitter clinical testing PLOD3: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000506522 SCV005268273 benign not provided criteria provided, single submitter not provided

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