ClinVar Miner

Submissions for variant NM_016358.3(IRX4):c.90A>C (p.Gly30=)

gnomAD frequency: 0.24160  dbSNP: rs2232374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001708471 SCV001934872 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001708471 SCV005305615 benign not provided criteria provided, single submitter not provided
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV004555882 SCV005044988 pathogenic See cases no assertion criteria provided case-control

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