ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1238-10C>T

gnomAD frequency: 0.00008  dbSNP: rs765940689
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001502286 SCV001707115 likely benign Fanconi anemia complementation group E 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001502286 SCV002811751 likely benign Fanconi anemia complementation group E 2022-05-13 criteria provided, single submitter clinical testing

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