ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)

dbSNP: rs781023784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666190 SCV000790440 uncertain significance Hereditary fructosuria 2017-03-21 criteria provided, single submitter clinical testing
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul RCV000666190 SCV001573832 pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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