ClinVar Miner

Submissions for variant NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) (rs267606731)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002432 SCV000022590 pathogenic Ehlers-Danlos syndrome, musculocontractural type 2010-08-01 no assertion criteria provided literature only

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