ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1421+13dup

dbSNP: rs780193130
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670851 SCV000795762 likely benign Tay-Sachs disease 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670851 SCV002330953 benign Tay-Sachs disease 2024-01-02 criteria provided, single submitter clinical testing

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