ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)

dbSNP: rs2148685859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848167 SCV002105636 pathogenic Hereditary spastic paraplegia 2018-08-01 criteria provided, single submitter clinical testing

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