ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.481+9C>T

gnomAD frequency: 0.00001  dbSNP: rs201026150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559493 SCV000644570 benign Tuberous sclerosis 2 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000607140 SCV000719427 likely benign not specified 2017-05-18 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.
Genome-Nilou Lab RCV000559493 SCV002041227 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114666 SCV003800545 likely benign not provided 2022-05-20 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000559493 SCV004016139 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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