ClinVar Miner

Submissions for variant NM_005220.3(DLX3):c.402G>A (p.Thr134=)

gnomAD frequency: 0.18221  dbSNP: rs2303466
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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 RCV000252607 SCV000310911 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388340 SCV000403924 benign Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001636786 SCV001849405 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000388340 SCV001876777 benign Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660275 SCV001876778 benign Tricho-dento-osseous syndrome 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001636786 SCV002407327 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636786 SCV005249878 benign not provided criteria provided, single submitter not provided

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