ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.168A>G (p.Gln56=) (rs2233697)

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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 RCV000117996 SCV000152313 benign not specified 2013-08-07 criteria provided, single submitter clinical testing
Invitae RCV001082437 SCV000261373 benign Hereditary spastic paraplegia 2 2020-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712769 SCV000843293 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715934 SCV000846766 likely benign History of neurodevelopmental disorder 2014-11-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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