ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.2331+6A>G

dbSNP: rs761030701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373111 SCV001569814 benign not provided 2023-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476709 SCV002798107 likely benign Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2022-03-23 criteria provided, single submitter clinical testing

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