ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln)

gnomAD frequency: 0.00759  dbSNP: rs61746625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001134686 SCV001294438 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV001134686 SCV002801028 likely benign Hydatidiform mole, recurrent, 1 2021-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883559 SCV004699277 benign not provided 2024-02-01 criteria provided, single submitter clinical testing NLRP7: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003883559 SCV005206002 likely benign not provided criteria provided, single submitter not provided

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