ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1014C>T (p.Ser338=)

gnomAD frequency: 0.00014  dbSNP: rs200149635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996351 SCV001151030 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514318 SCV001722134 benign Familial cold autoinflammatory syndrome 3 2024-01-15 criteria provided, single submitter clinical testing

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