ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4393-17C>T

gnomAD frequency: 0.00515  dbSNP: rs141152269
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124455 SCV000167888 benign not specified 2013-10-21 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 RCV000124455 SCV000302218 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812015 SCV001159420 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055493 SCV002410765 benign Ehlers-Danlos syndrome, classic type, 1 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002055493 SCV002554624 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269898 SCV002554626 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124455 SCV004029799 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812015 SCV005321136 benign not provided criteria provided, single submitter not provided

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