ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu)

dbSNP: rs587779669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory, University of Washington RCV000087659 SCV000120551 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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