ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2053+4A>T

dbSNP: rs1057518889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414951 SCV000492830 uncertain significance Short stature; Hirsutism; Myopia; Synophrys; Intellectual disability, moderate; Primary microcephaly; Hypotonia 2015-03-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197505 SCV001368273 uncertain significance Menke-Hennekam syndrome 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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