ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.582T>C (p.Asp194=)

gnomAD frequency: 0.00022  dbSNP: rs141988626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732867 SCV000860863 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV001476870 SCV001681088 likely benign Hereditary fructosuria 2022-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001476870 SCV002078717 likely benign Hereditary fructosuria 2020-08-07 no assertion criteria provided clinical testing

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