ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) (rs114618894)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514848 SCV000609991 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV001088196 SCV000652179 benign Familial cold autoinflammatory syndrome 3 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514848 SCV000885976 likely benign not provided 2017-08-15 criteria provided, single submitter clinical testing The c.2542C>T variant (rs114618894) has not been reported in association with immunodeficiency in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 1.7 percent (identified on 410 out of 24,002 chromosomes including 5 homozygotes). Based on these observations, the c.2542C>T variant is likely to be benign.
OMIM RCV001027875 SCV001190577 pathogenic Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 2020-03-24 no assertion criteria provided literature only

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