Submissions for variant NM_152383.5(DIS3L2):c.702+10T>G

gnomAD frequency: 0.00343  dbSNP: rs184764939

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231852	SCV000291514	benign	Perlman syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231852	SCV000428363	likely benign	Perlman syndrome	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.
GeneDx	RCV001579837	SCV001815215	likely benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820774	SCV002070851	benign	not specified	2021-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579837	SCV004153457	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	DIS3L2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001579837	SCV005261245	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579837	SCV001808674	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579837	SCV001969028	likely benign	not provided		no assertion criteria provided	clinical testing