ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3577G>A (p.Gly1193Arg)

dbSNP: rs1956451687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266944 SCV001445125 uncertain significance Inborn genetic diseases 2018-07-10 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004720301 SCV005045830 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation

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