Submissions for variant NM_005068.3(SIM1):c.279C>T (p.Phe93=)

gnomAD frequency: 0.00073  dbSNP: rs145361258

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000293219	SCV000339220	uncertain significance	not provided	2016-02-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000293219	SCV001034098	benign	not provided	2023-07-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152892	SCV001314131	uncertain significance	Obesity due to SIM1 deficiency	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. 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.
PreventionGenetics, part of Exact Sciences	RCV004547704	SCV004729595	likely benign	SIM1-related disorder	2019-09-18	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).