ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.902-5T>G

gnomAD frequency: 0.00001  dbSNP: rs201521887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999146 SCV002283023 likely benign Sandhoff disease 2024-11-21 criteria provided, single submitter clinical testing

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