ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

dbSNP: rs1595600383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989218 SCV001139447 pathogenic Hereditary spastic paraplegia 3A 2019-05-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580004 SCV001809322 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001580004 SCV001954262 likely pathogenic not provided no assertion criteria provided clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV000989218 SCV004011954 uncertain significance Hereditary spastic paraplegia 3A 2016-01-06 no assertion criteria provided literature only

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