ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.*248del

dbSNP: rs11351544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364153 SCV000481061 likely benign Fructose-biphosphatase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683456 SCV001896110 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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