ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp)

dbSNP: rs2131053797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001615380 SCV001832600 uncertain significance Fanconi anemia criteria provided, single submitter clinical testing

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