ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) (rs267606726)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000020007 SCV000040305 pathogenic Multiple pterygium syndrome Escobar type 2006-08-01 no assertion criteria provided literature only
OMIM RCV000020008 SCV000040306 pathogenic Lethal multiple pterygium syndrome 2006-08-01 no assertion criteria provided literature only

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