ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)

dbSNP: rs587779595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626591 SCV000747292 pathogenic Seizure; Connective tissue nevi 2017-01-01 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087547 SCV000120434 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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