ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=)

gnomAD frequency: 0.00003  dbSNP: rs747339529
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800376 SCV000940088 benign Kleefstra syndrome 1 2024-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311049 SCV001501075 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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