ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)

dbSNP: rs118204426
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
OMIM RCV000000497 SCV000020646 pathogenic Hereditary fructosuria 1990-09-01 no assertion criteria provided literature only
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul RCV000000497 SCV001573849 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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