ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2658G>A (p.Val886=)

gnomAD frequency: 0.00023  dbSNP: rs549242688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073294 SCV002471304 benign Familial cold autoinflammatory syndrome 3 2023-04-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703352 SCV001930051 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703352 SCV001965820 likely benign not provided no assertion criteria provided clinical testing

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