ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) (rs61749601)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147278 SCV000194650 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000147278 SCV000540036 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755597 SCV000604665 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000551418 SCV000636884 benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2017-07-31 criteria provided, single submitter clinical testing

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