ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-80T>C

gnomAD frequency: 0.53395  dbSNP: rs6500450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537720 SCV001754665 benign Fanconi anemia complementation group A 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001673146 SCV001887485 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673146 SCV005255286 benign not provided criteria provided, single submitter not provided

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