ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.465C>T (p.Ala155=)

gnomAD frequency: 0.00002  dbSNP: rs569981883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728701 SCV000856306 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV001504961 SCV001709849 likely benign Hereditary fructosuria 2023-10-03 criteria provided, single submitter clinical testing

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