ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2592+16C>T

dbSNP: rs145429817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241669 SCV000302167 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057304 SCV002339016 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002057304 SCV002554167 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270102 SCV002554168 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000241669 SCV005725783 benign not specified 2024-11-26 criteria provided, single submitter clinical testing

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