ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs)

dbSNP: rs2140319638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805763 SCV002053777 pathogenic Tay-Sachs disease criteria provided, single submitter clinical testing

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