ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2192+13_2192+14del

gnomAD frequency: 0.00001  dbSNP: rs766298831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893525 SCV002170525 benign Kleefstra syndrome 1 2024-07-16 criteria provided, single submitter clinical testing

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