ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)

dbSNP: rs2118354587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul RCV001376706 SCV001573842 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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