ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.4790_4793dup (p.Arg1599fs)

dbSNP: rs761707253
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755522 SCV002005063 uncertain significance not provided 2019-03-28 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 as the last 38 amino acids are lost and replaced with 6 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein

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