ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)

gnomAD frequency: 0.00003  dbSNP: rs371485747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Oncology Research Center, Barretos Cancer Hospital RCV001374563 SCV001438690 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research
Sema4, Sema4 RCV002256725 SCV002527961 uncertain significance Fanconi anemia 2021-10-27 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002491867 SCV002803973 uncertain significance Fanconi anemia complementation group E 2021-11-24 criteria provided, single submitter clinical testing

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