ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.1196G>A (p.Cys399Tyr)

gnomAD frequency: 0.00034  dbSNP: rs104895510
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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 RCV000083970 SCV001294328 uncertain significance Hydatidiform mole, recurrent, 1 2017-04-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083970 SCV000116087 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided

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