ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.*1190_*1191del

gnomAD frequency: 0.00040  dbSNP: rs764504513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343476 SCV000390068 uncertain significance Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing

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