ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter)

dbSNP: rs797045061
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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 RCV000191116 SCV000245521 pathogenic Lissencephaly due to LIS1 mutation 2013-05-16 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in a 19-year-old female with lissencephaly, intellectual disability, hypertonia, epilepsy, microcephaly

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