ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)

gnomAD frequency: 0.00115  dbSNP: rs146945932
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175801 SCV000227359 benign not specified 2016-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625323 SCV000347086 likely benign Achromatopsia 4 2018-01-12 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625323 SCV000744936 likely benign Achromatopsia 4 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000892905 SCV001036812 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625323 SCV004050197 likely benign Achromatopsia 4 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000892905 SCV005259249 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000175801 SCV001921865 benign not specified no assertion criteria provided clinical testing

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