ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del)

dbSNP: rs1747639986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253474 SCV001429191 likely pathogenic SHORT syndrome 2018-11-07 criteria provided, single submitter clinical testing

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