ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu)

gnomAD frequency: 0.00002  dbSNP: rs1414926823
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 RCV000702170 SCV000831011 likely benign Intellectual disability, X-linked 1 2023-10-27 criteria provided, single submitter clinical testing

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