ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg)

gnomAD frequency: 0.03179  dbSNP: rs61743949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289177 SCV000341258 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001133106 SCV001292792 benign Hydatidiform mole, recurrent, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004717137 SCV005312811 benign not provided criteria provided, single submitter not provided

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