ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.965T>C (p.Ile322Thr)

dbSNP: rs1749649940
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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 RCV001290316 SCV001478367 uncertain significance Sandhoff disease 2019-12-18 criteria provided, single submitter clinical testing

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