ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3610+9C>T

gnomAD frequency: 0.00042  dbSNP: rs45467194
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125674 SCV000169136 benign not specified 2013-05-24 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 RCV000229161 SCV000285357 benign Tuberous sclerosis 2 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000125674 SCV000305200 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000229161 SCV002039346 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255267 SCV002533429 benign Hereditary cancer-predisposing syndrome 2020-09-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496674 SCV002806283 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579347 SCV003799584 benign not provided 2023-03-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042786 SCV000066582 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579347 SCV001806884 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579347 SCV001917347 likely benign not provided no assertion criteria provided clinical testing

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