ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1302+11A>G

gnomAD frequency: 0.00006  dbSNP: rs772397695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118495 SCV002450073 likely benign Hereditary spastic paraplegia 47 2024-10-25 criteria provided, single submitter clinical testing

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