ClinVar Miner

Submissions for variant NM_000207.3(INS):c.*9C>T (rs3842752)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249051 SCV000302987 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289877 SCV000369875 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344882 SCV000369876 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402726 SCV000483260 benign Autosomal recessive DOPA responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000249051 SCV000613771 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103214 SCV001259940 likely benign Maturity-onset diabetes of the young, type 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001651115 SCV001863244 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12610512, 14551916)

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