ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)

gnomAD frequency: 0.16607  dbSNP: rs7187227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511377 SCV001718616 benign Epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544037 SCV001763005 benign Developmental and epileptic encephalopathy, 77 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673073 SCV001887554 benign not provided 2021-05-04 criteria provided, single submitter clinical testing

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