ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg)

gnomAD frequency: 0.00001  dbSNP: rs200195216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170005 SCV001251925 uncertain significance Short stature-brachydactyly-obesity-global developmental delay syndrome 2020-05-03 criteria provided, single submitter clinical testing

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