ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494058 SCV004242413 pathogenic Sandhoff disease 2024-01-03 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM3,PM2_SUP,PP4

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