ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln)

gnomAD frequency: 0.00001  dbSNP: rs782441771
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317614 SCV001508283 likely benign Intellectual disability, X-linked 1 2022-08-10 criteria provided, single submitter clinical testing

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