ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4470-3C>T

gnomAD frequency: 0.00036  dbSNP: rs201255391
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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 RCV000868357 SCV001009674 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000868357 SCV001857443 benign not provided 2020-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000868357 SCV004128436 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing MTOR: BP4, BS1

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