ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.946G>A (p.Val316Ile)

gnomAD frequency: 0.01791  dbSNP: rs28897764
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145334 SCV000192413 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361827 SCV000441456 benign Seckel syndrome 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001517033 SCV001470808 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517033 SCV001725423 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001517033 SCV001845231 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361827 SCV003801931 benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126539 SCV003801932 benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003126539 SCV004015556 benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517033 SCV005303016 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000361827 SCV005915046 benign Seckel syndrome 1 2021-07-30 criteria provided, single submitter research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001517033 SCV001798481 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001517033 SCV001970537 likely benign not provided no assertion criteria provided clinical testing

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