ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447710 SCV004175370 uncertain significance Immunodeficiency 62 2022-09-15 criteria provided, single submitter clinical testing

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