ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln)

gnomAD frequency: 0.00002  dbSNP: rs749484350
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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 RCV001892344 SCV002154984 benign Hereditary spastic paraplegia 4 2024-11-05 criteria provided, single submitter clinical testing

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