ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=)

gnomAD frequency: 0.00001  dbSNP: rs782524925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609159 SCV000721766 likely benign not specified 2017-08-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503848 SCV001708708 likely benign Intellectual disability, X-linked 1 2024-09-10 criteria provided, single submitter clinical testing

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