ClinVar Miner

Submissions for variant NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter)

gnomAD frequency: 0.00009 dbSNP: rs200446614

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000208591	SCV000264362	uncertain significance	Toriello-Lacassie-Droste syndrome	2023-04-17	no assertion criteria provided	literature only

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