ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2791del (p.Val931fs)

dbSNP: rs1578279277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008389 SCV001168158 pathogenic not provided 2020-09-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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)

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