ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.784-5A>G

gnomAD frequency: 0.00001  dbSNP: rs1356865335
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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 RCV002186393 SCV002487566 likely benign Hereditary spastic paraplegia 31 2021-06-12 criteria provided, single submitter clinical testing

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