ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.324G>A (p.Ser108=)

gnomAD frequency: 0.00001  dbSNP: rs762826105
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 RCV001426907 SCV001629568 likely benign Fanconi anemia complementation group E 2024-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001426907 SCV002804845 likely benign Fanconi anemia complementation group E 2021-12-26 criteria provided, single submitter clinical testing

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