ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.309G>A (p.Glu103=)

gnomAD frequency: 0.00036  dbSNP: rs142080998
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906177 SCV001050800 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906177 SCV004137518 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing AP3B2: BP4, BP7, BS1

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