ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.510G>T (p.Gln170His)

gnomAD frequency: 0.00001  dbSNP: rs1308431693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936807 SCV002218199 likely benign Kleefstra syndrome 1 2022-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001936807 SCV002783480 uncertain significance Kleefstra syndrome 1 2022-04-14 criteria provided, single submitter clinical testing

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