ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1809G>A (p.Ala603=)

gnomAD frequency: 0.00007  dbSNP: rs769450158
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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 RCV001506213 SCV001711132 likely benign Hereditary spastic paraplegia 4 2022-01-19 criteria provided, single submitter clinical testing

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