ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.929A>G (p.Gln310Arg)

gnomAD frequency: 0.01325  dbSNP: rs77812009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001132290 SCV001291945 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004704442 SCV005206000 likely benign not provided criteria provided, single submitter not provided

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