Submissions for variant NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)

gnomAD frequency: 0.00524  dbSNP: rs115652716

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000641032	SCV000762650	benign	Alzheimer disease 4	2024-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099323	SCV001255769	likely benign	Dilated cardiomyopathy 1V	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000641032	SCV001255770	benign	Alzheimer disease 4	2018-01-13	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.
Athena Diagnostics Inc	RCV001289156	SCV001476791	benign	not specified	2019-09-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001529678	SCV002575348	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529678	SCV001743535	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001289156	SCV001807188	benign	not specified		no assertion criteria provided	clinical testing