ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.798+1G>A

dbSNP: rs587779463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595921 SCV005090515 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087392 SCV000120276 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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