ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.183C>T (p.Ile61=)

gnomAD frequency: 0.00004  dbSNP: rs553657822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494298 SCV001698950 likely benign Familial cold autoinflammatory syndrome 3 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499113 SCV002807928 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-10-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000650054 SCV001932158 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000650054 SCV001964616 likely benign not provided no assertion criteria provided clinical testing

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