ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4387-13C>T

gnomAD frequency: 0.00005  dbSNP: rs548622939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659071 SCV001875277 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002073068 SCV002323976 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing

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