ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1413+2dup

dbSNP: rs587777756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508982 SCV001715441 pathogenic not provided 2021-01-04 criteria provided, single submitter clinical testing PVS1, PM2
OMIM RCV000006021 SCV000026203 pathogenic Hereditary spastic paraplegia 4 2001-12-01 no assertion criteria provided literature only

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