Submissions for variant NM_000447.3(PSEN2):c.708T>C (p.Ser236=)

gnomAD frequency: 0.03044  dbSNP: rs61730652

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252997	SCV000304362	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000266614	SCV000355179	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	RCV000321741	SCV000355180	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	RCV000712877	SCV000843428	benign	not provided	2017-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV000321741	SCV001721909	benign	Alzheimer disease 4	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000712877	SCV001890171	benign	not provided	2018-09-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31914229)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712877	SCV002047957	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing