ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5246+8C>G

gnomAD frequency: 0.00706  dbSNP: rs185062807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949644 SCV001095908 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000949644 SCV001872488 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000949644 SCV005286021 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913283 SCV004734412 benign MTOR-related disorder 2019-03-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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