ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.565-10A>G

gnomAD frequency: 0.03201  dbSNP: rs62046684
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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 RCV000535988 SCV000652183 benign Familial cold autoinflammatory syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001597170 SCV001831355 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597170 SCV005250063 benign not provided criteria provided, single submitter not provided

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