ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.3116C>T (p.Ser1039Leu)

gnomAD frequency: 0.00046  dbSNP: rs111678678
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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 RCV000912201 SCV001057295 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000912201 SCV005093183 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TET2: BP4, BS1
ITMI RCV000122129 SCV000086344 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000122129 SCV003840121 benign not specified 2022-05-06 no assertion criteria provided clinical testing

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