ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1926T>C (p.His642=)

dbSNP: rs1480000484
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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 RCV002203073 SCV002489018 likely benign Hereditary spastic paraplegia 47 2022-08-09 criteria provided, single submitter clinical testing

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