Submissions for variant NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)

gnomAD frequency: 0.00001  dbSNP: rs796053512

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231440	SCV000285312	benign	Tuberous sclerosis 2	2023-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001016356	SCV001177304	likely benign	Hereditary cancer-predisposing syndrome	2020-12-14	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.
Genome-Nilou Lab	RCV000231440	SCV002039679	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Centogene AG - the Rare Disease Company	RCV000231440	SCV002059233	uncertain significance	Tuberous sclerosis 2	2018-09-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884383	SCV004702788	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TSC2: PM1, PP3, PS3:Supporting