ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.84T>C (p.Asp28=)

gnomAD frequency: 0.00006  dbSNP: rs777732581
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002165531 SCV002336448 likely benign Hereditary spastic paraplegia 50 2024-06-30 criteria provided, single submitter clinical testing

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