ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=)

gnomAD frequency: 0.02170  dbSNP: rs1128426
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546349 SCV000656686 benign Epilepsy, familial focal, with variable foci 3 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001724063 SCV001949576 benign not provided 2018-08-15 criteria provided, single submitter clinical testing

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