ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.930G>T (p.Gln310His)

gnomAD frequency: 0.00203  dbSNP: rs145973556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001132289 SCV001291944 uncertain significance Hydatidiform mole, recurrent, 1 2018-06-19 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529621 SCV001743381 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529621 SCV001965561 likely benign not provided no assertion criteria provided clinical testing

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