Submissions for variant NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=)

gnomAD frequency: 0.01655  dbSNP: rs17272089

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000331495	SCV000428368	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	RCV000331495	SCV000561834	benign	Perlman syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001683339	SCV001899194	benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001795952	SCV002035233	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795952	SCV002035338	benign	not specified		no assertion criteria provided	clinical testing