ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)

dbSNP: rs74315428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464057 SCV002758859 likely pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation as the last 149 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 25525159, 16411190)
OMIM RCV000003492 SCV000023650 pathogenic Duane-radial ray syndrome 2006-02-01 no assertion criteria provided literature only
GeneReviews RCV000003492 SCV000203845 not provided Duane-radial ray syndrome no assertion provided literature only

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