Submissions for variant NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=)

gnomAD frequency: 0.00221  dbSNP: rs201793890

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001572736	SCV001856828	benign	not provided	2021-03-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368594	SCV002624886	likely benign	Inborn genetic diseases	2017-10-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001572736	SCV004155337	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SHANK3: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001572736	SCV005277462	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572736	SCV001797559	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701200	SCV001920395	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572736	SCV001967826	likely benign	not provided		no assertion criteria provided	clinical testing