Submissions for variant NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=)

gnomAD frequency: 0.13184  dbSNP: rs3811578

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243602	SCV000316152	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000371231	SCV000428386	benign	Perlman syndrome	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.
Invitae	RCV000371231	SCV001717247	benign	Perlman syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000371231	SCV001876758	benign	Perlman syndrome	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001683138	SCV001904130	benign	not provided	2019-02-06	criteria provided, single submitter	clinical testing