ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1064+9C>T (rs200517349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000030192 SCV000166703 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000609911 SCV000724265 likely benign not specified 2017-12-15 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.
PreventionGenetics,PreventionGenetics RCV000679246 SCV000805915 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001108572 SCV001265825 uncertain significance Hyperparathyroidism 2018-08-15 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000030192 SCV001265826 benign Multiple endocrine neoplasia, type 1 2018-08-15 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Integrated Genetics/Laboratory Corporation of America RCV000030192 SCV000052858 not provided Multiple endocrine neoplasia, type 1 2015-10-02 no assertion provided clinical testing

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