ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg)

gnomAD frequency: 0.00001  dbSNP: rs757964620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293993 SCV001482735 uncertain significance Fanconi anemia complementation group I 2018-11-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001293993 SCV002791117 uncertain significance Fanconi anemia complementation group I 2022-03-11 criteria provided, single submitter clinical testing

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