ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.726C>T (p.Ile242=)

gnomAD frequency: 0.00001  dbSNP: rs143840469
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 RCV002092976 SCV002376719 likely benign Hereditary spastic paraplegia 6 2024-04-05 criteria provided, single submitter clinical testing

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