ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.5494C>A (p.Pro1832Thr) (rs797045051)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191101 SCV000245501 likely pathogenic Wiedemann-Steiner syndrome 2013-10-11 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 19-year-old female with hypertrophic cardiomyopathy, polyneuropathy, chorea, epilepsy, delayed puberty, PCOS, osteopenia, mild intellectual disability, hypertrichosis, Asperger syndrome, attention deficit, anxiety, strabismus, dysmorphisms

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