ClinVar Miner

Submissions for variant NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro)

gnomAD frequency: 0.32799  dbSNP: rs4904210
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247763 SCV000311408 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000600885 SCV000386715 benign Tooth agenesis, selective, 3 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000600885 SCV000744035 benign Tooth agenesis, selective, 3 2014-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513163 SCV001720723 benign Hypodontia 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668518 SCV001883913 benign not provided 2019-02-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30256498, 29023497, 24238416, 27884173, 20077892, 19641755, 24222224, 20660504, 21530942, 21111400)
Breakthrough Genomics, Breakthrough Genomics RCV001668518 SCV005293601 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600885 SCV000733380 benign Tooth agenesis, selective, 3 no assertion criteria provided clinical testing

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