ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser)

dbSNP: rs786204796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004586590 SCV005038607 pathogenic Myopathy with tubular aggregates 2024-03-01 criteria provided, single submitter research PS3+PM2+PM6+PP3+PP4
OMIM RCV000169690 SCV000221227 pathogenic Myopathy, tubular aggregate, 2 2015-02-01 no assertion criteria provided literature only

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