ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)

gnomAD frequency: 0.00001  dbSNP: rs142934146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001256674 SCV001433048 pathogenic Catel-Manzke syndrome 2012-01-07 criteria provided, single submitter research

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