ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=)

gnomAD frequency: 0.00003  dbSNP: rs1556880350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647962 SCV000769772 likely benign Intellectual disability, X-linked 1 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424492 SCV002741893 likely benign Inborn genetic diseases 2018-07-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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