ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.432-14A>G

gnomAD frequency: 0.00005  dbSNP: rs750581048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002175618 SCV002347278 benign Familial cold autoinflammatory syndrome 3 2023-10-13 criteria provided, single submitter clinical testing

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