ClinVar Miner

Submissions for variant NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)

dbSNP: rs1471188671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001290101 SCV001446325 pathogenic Autosomal recessive spastic paraplegia type 76 criteria provided, single submitter clinical testing

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