ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) (rs140936904)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000147034 SCV000194376 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724852 SCV000230921 uncertain significance not provided 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000147034 SCV000525302 likely benign not specified 2017-06-20 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.
Invitae RCV000724852 SCV001005106 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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