Submissions for variant NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)

gnomAD frequency: 0.00010  dbSNP: rs144062721

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472991	SCV000544494	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001200216	SCV000732256	benign	not provided	2019-05-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22903760)
Ambry Genetics	RCV002257398	SCV000849670	likely benign	Hereditary cancer-predisposing syndrome	2021-05-19	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	RCV001200216	SCV001371116	likely benign	not provided	2020-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000472991	SCV002039491	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257398	SCV002533946	benign	Hereditary cancer-predisposing syndrome	2021-10-19	criteria provided, single submitter	curation
Tuberous sclerosis database (TSC2)	RCV000055330	SCV000083550	not provided	Lymphangiomyomatosis		no assertion provided	curation