ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.865del (p.Leu289fs) (rs864309533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000202634 SCV000257573 pathogenic Hereditary fructosuria 2015-10-07 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000202634 SCV000599823 pathogenic Hereditary fructosuria 2017-04-20 no assertion criteria provided clinical testing

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