ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1200+9C>T (rs11564717)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253406 SCV000317142 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289760 SCV000483272 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325988 SCV000483273 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468948 SCV000563356 benign Dystonia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000253406 SCV000729193 benign not specified 2017-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625349 SCV000745016 likely benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625349 SCV001265809 benign Segawa syndrome, autosomal recessive 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625349 SCV000745782 likely benign Segawa syndrome, autosomal recessive 2016-04-19 no assertion criteria provided clinical testing

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