ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.569-10T>C (rs113994202)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623782 SCV000742598 likely pathogenic Inborn genetic diseases 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000494023 SCV000708127 pathogenic not provided 2017-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000494023 SCV000582158 pathogenic not provided 2018-02-22 criteria provided, single submitter clinical testing The c.569-10 T>C pathogenic variant in the PAFAH1B1 gene has been reported previously as a de novo change in multiple unrelated individuals with lissencephaly (Cardoso et al., 2000; Uyanik et al., 2007; Philbert et al., 2017). Additionally, this variant has been identified as a de novo change in a patient with lissencephaly tested at GeneDx. Functional studies suggest c.569-10 T>C causes abnormal gene splicing (Philbert et al., 2017). The c.569-10 T>C variant is not observed in large population cohorts (Lek et al., 2016).
GeneReviews RCV000020304 SCV000040672 pathologic Lissencephaly 1 2009-03-03 no assertion criteria provided curation Converted during submission to Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000020304 SCV000194389 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing

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