ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=)

dbSNP: rs759742089
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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 RCV002172960 SCV002336470 likely benign Hereditary spastic paraplegia 47 2023-11-13 criteria provided, single submitter clinical testing

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