ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.524del (p.Gly175fs)

dbSNP: rs773363446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460997 SCV004199089 likely pathogenic Fanconi anemia complementation group E 2022-01-02 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722244 SCV000853375 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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