ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) (rs1057518680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000414866 SCV000328764 likely pathogenic Kabuki syndrome 1 2014-12-16 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in KMT2D (NM_003482.3, c.2389C>G) and HEXA (NM_000520.4, c.1274_1277dup and c.1073+1G>A in trans) in one individual with reported features which include prematurity, intrauterine growth retardation, severe developmental delay, developmental regression, hypotonia, seizure disorder, microcephaly, short stature, and failure to thrive.

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