ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.630G>A (p.Val210=)

gnomAD frequency: 0.00014  dbSNP: rs537780447
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078965 SCV002424882 likely benign Hereditary spastic paraplegia 50 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426333 SCV004162622 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing AP4M1: BP4, BP7

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