ClinVar Miner

Submissions for variant NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)

gnomAD frequency: 0.00002  dbSNP: rs375334289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730044 SCV001976806 likely pathogenic Noonan syndrome 13 2021-10-05 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP2

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