ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.576C>T (p.Val192=)

dbSNP: rs776742429
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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 RCV000870791 SCV001012334 likely benign Hereditary spastic paraplegia 50 2023-04-05 criteria provided, single submitter clinical testing

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