ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) (rs80338764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032107 SCV000055647 pathologic Ehlers-Danlos syndrome, classic type 2011-08-18 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000032107 SCV000039008 pathogenic Ehlers-Danlos syndrome, classic type 1997-03-01 no assertion criteria provided literature only

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