ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3125del (p.Leu1042fs)

dbSNP: rs797045049
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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 RCV000191097 SCV000245496 likely pathogenic Koolen-de Vries syndrome 2014-04-25 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 19-year-old male with regression, autism, intellectual disability, hypertonia, abnormal movements, short stature, obsessive compulsive disorder, hypothyroidism, a remote history of seizure, similarly affected sibling (not tested)

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