ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)

gnomAD frequency: 0.00004  dbSNP: rs781830206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533245 SCV000649571 benign Intellectual disability, X-linked 1 2024-07-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000533245 SCV000864355 uncertain significance Intellectual disability, X-linked 1 2018-10-11 criteria provided, single submitter clinical testing BP5; This variant was found in a case with an alternate molecular basis of disease.
Fulgent Genetics, Fulgent Genetics RCV000533245 SCV000897573 uncertain significance Intellectual disability, X-linked 1 2018-10-31 criteria provided, single submitter clinical testing

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