Submissions for variant NM_001372044.2(SHANK3):c.3904del

dbSNP: rs762292772

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503512	SCV000597045	pathogenic	Phelan-McDermid syndrome	2015-12-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Strasbourg University Hospital	RCV001257626	SCV001434436	likely pathogenic	Intellectual disability	2020-04-20	criteria provided, single submitter	clinical testing
Centogene AG - the Rare Disease Company	RCV000503512	SCV002028323	likely pathogenic	Phelan-McDermid syndrome	2020-04-20	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV002274045	SCV002559103	pathogenic	Neurodevelopmental delay		criteria provided, single submitter	clinical testing
GeneDx	RCV002466523	SCV002762147	pathogenic	not provided	2022-06-07	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002490842	SCV002791816	likely pathogenic	Phelan-McDermid syndrome; Schizophrenia 15	2021-09-07	criteria provided, single submitter	clinical testing