ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) (rs121912885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018927 SCV000039212 pathogenic Stickler syndrome, type I, nonsyndromic ocular 2005-02-01 no assertion criteria provided literature only
GeneReviews RCV000144727 SCV000190934 pathogenic Stickler syndrome type 1 2021-05-06 no assertion criteria provided literature only

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