ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1600-10C>T

gnomAD frequency: 0.00003  dbSNP: rs768188836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228846 SCV000285251 benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000609241 SCV000732557 likely benign not specified 2017-10-03 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 RCV000228846 SCV002041357 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000228846 SCV004016176 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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