ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) (rs863223313)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000020005	SCV000040303	pathogenic	Multiple pterygium syndrome Escobar type	2006-08-01	no assertion criteria provided	literature only

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