ClinVar Miner

Submissions for variant NM_001271803.2(REEP2):c.489C>T (p.Asp163=)

gnomAD frequency: 0.00006  dbSNP: rs376577382
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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 RCV001458192 SCV001662008 likely benign Hereditary spastic paraplegia 72 2024-05-24 criteria provided, single submitter clinical testing

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