ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=)

gnomAD frequency: 0.03784  dbSNP: rs73055288
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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 RCV000368287 SCV000414695 likely benign Hydatidiform mole, recurrent, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001293262 SCV001481854 likely benign Hydatidiform mole 2021-02-22 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004703807 SCV005205997 likely benign not provided criteria provided, single submitter not provided

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