ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) (rs34751342)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145020 SCV000519890 benign not specified 2016-04-25 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 RCV000462246 SCV000559477 benign Spastic paraplegia 47, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716169 SCV000847006 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145020 SCV000192057 likely benign not specified no assertion criteria provided clinical testing

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