ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.189G>A (p.Ala63=)

gnomAD frequency: 0.00096  dbSNP: rs145841558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895421 SCV001039461 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000895421 SCV001982306 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen RCV000895421 SCV002063439 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing AP3B2: BP4, BP7

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