ClinVar Miner

Submissions for variant NM_001289.6(CLIC2):c.303C>G (p.His101Gln)

gnomAD frequency: 0.00012  dbSNP: rs398122917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247413 SCV002518110 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000033043 SCV000056823 pathogenic X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 2012-10-15 no assertion criteria provided literature only

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