ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)

dbSNP: rs587779481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788470 SCV000927596 likely pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087413 SCV000120297 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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