ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)

dbSNP: rs137853986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189878 SCV000243531 likely benign not specified 2014-12-31 criteria provided, single submitter clinical testing The variant is found in TUBSC-EPIV2 panel(s).
Invitae RCV000540959 SCV000644683 likely benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019098 SCV001180412 benign Hereditary cancer-predisposing syndrome 2021-01-15 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000540959 SCV002041116 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042653 SCV000066448 not provided Tuberous sclerosis syndrome no assertion provided curation

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