ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.1379-6C>G

gnomAD frequency: 0.00002  dbSNP: rs1030446693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227685 SCV002506761 uncertain significance Developmental and epileptic encephalopathy, 48 2021-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120843 SCV003789090 likely benign not provided 2024-12-28 criteria provided, single submitter clinical testing

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