ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5812-19G>A

gnomAD frequency: 0.00005  dbSNP: rs374670621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001689298 SCV001914936 benign not provided 2020-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689298 SCV002377991 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001689298 SCV001926170 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001689298 SCV001930891 likely benign not provided no assertion criteria provided clinical testing

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