ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.*17C>T (rs6628)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078809 SCV000110669 benign not specified 2014-09-26 criteria provided, single submitter clinical testing
GeneReviews RCV000020300 SCV000040668 benign Lissencephaly 1 2014-08-14 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000376479 SCV000401316 benign Lissencephaly/Subcortical Band Heterotopia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078809 SCV000304214 benign not specified criteria provided, single submitter clinical testing

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