ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4687-12dup

dbSNP: rs769363376
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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 RCV000865450 SCV001006417 likely benign not provided 2024-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000865450 SCV001982861 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955630 SCV004780391 likely benign MTOR-related disorder 2022-02-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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