ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1361+20C>G

gnomAD frequency: 0.00001  dbSNP: rs538626543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422865 SCV000518052 likely benign not specified 2017-12-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062300 SCV002436236 benign Tuberous sclerosis 2 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480292 SCV002797981 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002062300 SCV004016150 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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