ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3364-17C>T

gnomAD frequency: 0.00070  dbSNP: rs201720941
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124509 SCV000167942 benign not specified 2014-05-12 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680514 SCV000807899 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002055503 SCV002431452 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227068 SCV002506317 benign Ehlers-Danlos syndrome, classic type, 2 2022-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124509 SCV004028675 benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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