ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.219C>A (p.Ala73=)

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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 RCV003066980 SCV003454481 likely benign Sandhoff disease 2024-08-15 criteria provided, single submitter clinical testing

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