ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5959dup (p.Ala1987fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004772496 SCV005385061 uncertain significance not provided 2024-02-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 62 amino acids are replaced with 15 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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