ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.333del (p.Cys112fs)

dbSNP: rs587779405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247494 SCV002516493 pathogenic Tay-Sachs disease, variant AB 2022-05-04 criteria provided, single submitter clinical testing
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela RCV000087094 SCV000119951 pathogenic Tay-Sachs disease no assertion criteria provided research

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