ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2898+20C>T

gnomAD frequency: 0.00001  dbSNP: rs781174331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698387 SCV000534292 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063590 SCV002421988 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-20 criteria provided, single submitter clinical testing

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