ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4255G>C (p.Asp1419His)

dbSNP: rs2139270064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752786 SCV001997739 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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