ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)

dbSNP: rs587779400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela RCV000087087 SCV000119944 pathogenic Mucopolysaccharidosis type 7 no assertion criteria provided research

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