ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)

gnomAD frequency: 0.51194  dbSNP: rs2235624
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
Genome-Nilou Lab RCV001544375 SCV001763401 benign TELO2-related intellectual disability-neurodevelopmental disorder 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002071974 SCV002424645 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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