ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1935+105T>G

gnomAD frequency: 0.00194  dbSNP: rs186082235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507552 SCV000604879 likely benign Bone fragility with contractures, arterial rupture, and deafness 2018-08-22 criteria provided, single submitter clinical testing

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