ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) (rs34249695)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514831 SCV000610134 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV001086576 SCV000771104 benign Spastic paraplegia 47, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715812 SCV000846643 benign History of neurodevelopmental disorder 2016-05-11 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory,University of Chicago RCV000145018 SCV000192055 likely benign not specified no assertion criteria provided clinical testing

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