ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)

gnomAD frequency: 0.00002  dbSNP: rs146814571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333221 SCV001525743 uncertain significance Kleefstra syndrome 1 2018-08-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333221 SCV002224726 benign Kleefstra syndrome 1 2022-11-09 criteria provided, single submitter clinical testing

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