ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1249-9G>T

gnomAD frequency: 0.00552  dbSNP: rs73669157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000318392 SCV000636566 benign Kleefstra syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001706613 SCV001882935 benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000318392 SCV002797823 likely benign Kleefstra syndrome 1 2021-08-06 criteria provided, single submitter clinical testing

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