Submissions for variant NM_003977.4(AIP):c.920= (p.Arg307=)

gnomAD frequency: 0.99984  dbSNP: rs4930199

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243723	SCV000309896	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302136	SCV000373588	benign	Somatotroph adenoma	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics	RCV000572817	SCV000664942	benign	Hereditary cancer-predisposing syndrome	2016-12-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001522773	SCV001732375	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522773	SCV001862618	benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 25938168)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000243723	SCV001742848	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000243723	SCV001929231	benign	not specified		no assertion criteria provided	clinical testing