ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=)

gnomAD frequency: 0.05436  dbSNP: rs1315062158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877778 SCV001020562 likely benign Intellectual disability, X-linked 1 2024-02-09 criteria provided, single submitter clinical testing
GeneDx RCV001683686 SCV001898188 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683686 SCV005210482 likely benign not provided criteria provided, single submitter not provided

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