ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) (rs200983489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995407 SCV001149550 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270044 SCV001448772 uncertain significance Autistic disorder of childhood onset; Global developmental delay; Feeding difficulties; Delayed speech and language development; Microcephaly; Abnormality of eye movement; Generalized hypotonia; Gastroesophageal reflux; Neurological speech impairment; Muscular hypotonia 2019-03-04 criteria provided, single submitter clinical testing

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