ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=)

gnomAD frequency: 0.00001  dbSNP: rs886063743
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659140 SCV000780955 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000292596 SCV000833626 benign Kleefstra syndrome 1 2023-10-18 criteria provided, single submitter clinical testing

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