ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=)

gnomAD frequency: 0.00001  dbSNP: rs782511486
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484983 SCV001689407 likely benign Intellectual disability, X-linked 1 2025-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532687 SCV001748355 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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