ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)

dbSNP: rs1555322610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000509049 SCV002579491 pathogenic Myopathy, tubular aggregate, 2 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000509049 SCV000606831 pathogenic Myopathy, tubular aggregate, 2 2017-10-04 no assertion criteria provided literature only

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