ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp)

dbSNP: rs1300327079
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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 RCV001333220 SCV001525742 uncertain significance Kleefstra syndrome 1 2018-11-08 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 RCV001333220 SCV001730663 benign Kleefstra syndrome 1 2023-12-30 criteria provided, single submitter clinical testing

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