ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)

gnomAD frequency: 0.00163  dbSNP: rs189265179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373446 SCV000386436 benign Revesz syndrome 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.
Illumina Laboratory Services, Illumina RCV000276665 SCV000386437 benign Dyskeratosis congenita, autosomal dominant 3 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.
Invitae RCV000474104 SCV000557260 benign Dyskeratosis congenita 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494981 SCV002801287 likely benign Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 2021-08-17 criteria provided, single submitter clinical testing

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