ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1107G>A (p.Ala369=)

gnomAD frequency: 0.00002  dbSNP: rs540617218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499884 SCV000594511 likely benign not specified 2016-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000946411 SCV001092542 benign Kleefstra syndrome 1 2024-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001672810 SCV001890286 benign not provided 2018-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672810 SCV005435117 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing EHMT1: BP4, BP7

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