ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)

dbSNP: rs1057518993
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, CHU Rennes RCV000414794 SCV000493086 likely pathogenic Autism; Severe intellectual deficiency no assertion criteria provided clinical testing

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