ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)

gnomAD frequency: 0.00007  dbSNP: rs142545002
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516938 SCV001725312 benign Intellectual disability, X-linked 1 2024-01-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001516938 SCV003815648 uncertain significance Intellectual disability, X-linked 1 2022-02-23 criteria provided, single submitter clinical testing

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