ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2800-18C>T

dbSNP: rs73664144
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441653 SCV000512705 likely benign not specified 2018-02-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061363 SCV002403057 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002061363 SCV002554195 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270249 SCV002554196 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502468 SCV002809503 likely benign Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2022-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441653 SCV004122290 benign not specified 2023-10-29 criteria provided, single submitter clinical testing

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