Submissions for variant NM_001195248.2(APTX):c.484-3del

dbSNP: rs373304582

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202953	SCV000257830	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000202953	SCV000338141	benign	not specified	2015-12-08	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000202953	SCV000538337	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx	RCV000676808	SCV000565679	likely benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV000676808	SCV002357952	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676808	SCV000802617	benign	not provided	2016-02-11	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000676808	SCV001920841	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000202953	SCV001928513	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202953	SCV001966879	benign	not specified		no assertion criteria provided	clinical testing