ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2799+11G>A

gnomAD frequency: 0.00018  dbSNP: rs377322092
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124431 SCV000167864 benign not specified 2013-03-28 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286355 SCV001472912 likely benign Ehlers-Danlos syndrome, classic type 2020-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055485 SCV002476363 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002055485 SCV002554191 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269880 SCV002554192 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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