ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) (rs150380620)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078814 SCV000110674 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078814 SCV000194408 likely benign not specified 2015-12-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305647 SCV000401312 likely benign Lissencephaly/Subcortical Band Heterotopia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078814 SCV000722674 likely benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000712502 SCV000843005 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000712502 SCV001013106 benign not provided 2018-12-20 criteria provided, single submitter clinical testing

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