ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.76+17C>T

gnomAD frequency: 0.00498  dbSNP: rs113691754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610246 SCV000714073 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001505 SCV001158808 benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2020-03-18 criteria provided, single submitter clinical testing
Invitae RCV001001505 SCV002437361 benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610246 SCV004038885 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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