ClinVar Miner

Submissions for variant NM_000143.4(FH):c.140_147del (p.Gln47fs)

dbSNP: rs1573888556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008066 SCV001167803 pathogenic not provided 2019-10-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Identified in individuals with a personal and family history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx; Has not been previously published as pathogenic or benign to our knowledge

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