ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter)

dbSNP: rs797044665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175335 SCV000226806 likely pathogenic not provided 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000175335 SCV001804504 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing Nonsense 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); Has not been previously published as pathogenic or benign to our knowledge

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