ClinVar Miner

Submissions for variant NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)

dbSNP: rs1948677308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001290098 SCV001446321 pathogenic Autosomal recessive spastic paraplegia type 76 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269989 SCV001450395 likely pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing

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