ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+152C>T

gnomAD frequency: 0.00827  dbSNP: rs113504942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556613 SCV001778226 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501897 SCV002809048 benign Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-07-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001556613 SCV005228547 likely benign not provided criteria provided, single submitter not provided

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