ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3451+17C>T

gnomAD frequency: 0.00001  dbSNP: rs1057522236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424985 SCV000526737 likely benign not specified 2016-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV001334782 SCV001527731 uncertain significance Intellectual disability, X-linked 1 2018-02-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334782 SCV005791081 likely benign Intellectual disability, X-linked 1 2024-06-05 criteria provided, single submitter clinical testing

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