ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.1176G>A (p.Leu392=)

gnomAD frequency: 0.00664  dbSNP: rs149142910
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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 RCV000961003 SCV001108032 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000961003 SCV001961112 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TOE1: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago RCV001819030 SCV002067742 benign not specified 2021-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503005 SCV002809004 likely benign Pontocerebellar hypoplasia type 7 2022-04-26 criteria provided, single submitter clinical testing

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