ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2316C>T (p.Ile772=)

gnomAD frequency: 0.00001  dbSNP: rs1337229168
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001491984 SCV001696589 likely benign Intellectual disability, X-linked 1 2022-02-20 criteria provided, single submitter clinical testing

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