ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.984C>G (p.Leu328=)

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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 RCV002958524 SCV003277959 likely benign Hereditary spastic paraplegia 50 2022-09-17 criteria provided, single submitter clinical testing

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