ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1152C>T (p.Asp384=)

gnomAD frequency: 0.00222  dbSNP: rs13333713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650052 SCV000771889 benign Familial cold autoinflammatory syndrome 3 2023-12-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710180 SCV005250758 benign not provided criteria provided, single submitter not provided

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