ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.244-6dup

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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 RCV002638025 SCV003516979 benign Tay-Sachs disease, variant AB 2025-01-27 criteria provided, single submitter clinical testing

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