ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.987-18T>G

gnomAD frequency: 0.00001  dbSNP: rs374977824
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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 RCV002088250 SCV002372531 likely benign Tay-Sachs disease 2025-01-13 criteria provided, single submitter clinical testing

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