ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.777G>A (p.Leu259=) (rs199909967)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196618 SCV000253653 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491869 SCV000579694 likely benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092063 SCV001248413 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000196618 SCV001260162 benign Multiple endocrine neoplasia, type 1 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001103406 SCV001260164 uncertain significance Hyperparathyroidism 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). 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.

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