ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala)

dbSNP: rs760333736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790389 SCV000925627 uncertain significance Sandhoff disease 2019-05-15 criteria provided, single submitter clinical testing

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