ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.246T>C (p.Tyr82=)

gnomAD frequency: 0.00004  dbSNP: rs982694851
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 RCV002064524 SCV002334141 likely benign Hereditary spastic paraplegia 2 2024-08-24 criteria provided, single submitter clinical testing

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