Submissions for variant NM_001370259.2(MEN1):c.655-6C>G

dbSNP: rs77461664

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231039	SCV000291302	likely benign	Multiple endocrine neoplasia, type 1	2023-12-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000604145	SCV000730549	likely benign	not specified	2017-08-07	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.
Mendelics	RCV000231039	SCV000838457	benign	Multiple endocrine neoplasia, type 1	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105328	SCV001262282	uncertain significance	Hyperparathyroidism	2017-04-28	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 Laboratory Services, Illumina	RCV000231039	SCV001262283	uncertain significance	Multiple endocrine neoplasia, type 1	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sema4, Sema4	RCV002256173	SCV002530080	likely benign	Hereditary cancer-predisposing syndrome	2021-11-29	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003919981	SCV004729629	likely benign	MEN1-related disorder	2022-03-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).