ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)

gnomAD frequency: 0.00001  dbSNP: rs574635615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595425 SCV000708150 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
Invitae RCV001084554 SCV001117979 benign Hereditary fructosuria 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962720 SCV004776940 likely benign ALDOB-related condition 2023-07-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001084554 SCV002078719 likely benign Hereditary fructosuria 2020-08-10 no assertion criteria provided clinical testing

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