ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)

gnomAD frequency: 0.00001  dbSNP: rs773240506
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556678 SCV000644467 benign Tuberous sclerosis 2 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020906 SCV001182450 likely benign Hereditary cancer-predisposing syndrome 2019-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000556678 SCV002039361 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001020906 SCV002533438 likely benign Hereditary cancer-predisposing syndrome 2021-07-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002506351 SCV002812608 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-23 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000556678 SCV004016185 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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