ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1402-15dup

dbSNP: rs781861463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952550 SCV001099064 benign Intellectual disability, X-linked 1 2024-01-24 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000952550 SCV001369465 likely benign Intellectual disability, X-linked 1 2019-10-01 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP4. This variant was detected in hemizygous state.
GeneDx RCV001585885 SCV001818099 likely benign not provided 2023-04-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001585885 SCV001926694 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001585885 SCV001969830 likely benign not provided no assertion criteria provided clinical testing

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