ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)

gnomAD frequency: 0.00001  dbSNP: rs749414404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369075 SCV001565504 likely benign Tuberous sclerosis 1 2023-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493882 SCV002778725 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570907 SCV005054420 uncertain significance Isolated focal cortical dysplasia type II 2023-11-14 criteria provided, single submitter clinical testing

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