ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) (rs147542347)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352600 SCV000386673 benign Benign hereditary chorea 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000405543 SCV000386674 benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595295 SCV000704840 benign not specified 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000861414 SCV001001718 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000405543 SCV001371792 likely benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2020-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000861414 SCV001763892 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000595295 SCV001739637 benign not specified no assertion criteria provided clinical testing

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