ClinVar Miner

Submissions for variant NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)

gnomAD frequency: 0.00006  dbSNP: rs749203329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491445 SCV000282210 likely pathogenic Hypertelorism; Global developmental delay; Cerebral atrophy; Short nose; Abnormal cortical gyration; Infantile spasms; Hypotonia 2016-01-10 no assertion criteria provided research

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