ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)

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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 RCV003642046 SCV004526721 likely benign Hereditary spastic paraplegia 47 2023-01-08 criteria provided, single submitter clinical testing

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