ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2769+19A>T

gnomAD frequency: 0.00481  dbSNP: rs111609220
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198432 SCV000249940 benign not specified 2014-12-30 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.
Preventiongenetics, part of Exact Sciences RCV000198432 SCV000303991 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002057029 SCV002408268 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114351 SCV003799364 likely benign Ehlers-Danlos syndrome, classic type, 2 2022-04-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000198432 SCV004028671 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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