ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.654T>C (p.Asn218=)

gnomAD frequency: 0.00001  dbSNP: rs780943027
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001427925 SCV001630616 likely benign Hereditary fructosuria 2023-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001427925 SCV002078715 likely benign Hereditary fructosuria 2021-05-17 no assertion criteria provided clinical testing

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