ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2748G>A (p.Leu916=)

gnomAD frequency: 0.00001  dbSNP: rs757674443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539901 SCV000644371 likely benign Tuberous sclerosis 2 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016476 SCV001177436 likely benign Hereditary cancer-predisposing syndrome 2018-10-09 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.
GeneDx RCV000996157 SCV001782544 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539901 SCV002039247 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000539901 SCV004016207 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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