ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg)

dbSNP: rs2124479522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002275669 SCV002564346 uncertain significance Noonan syndrome 4 2021-08-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287535 SCV002577845 uncertain significance See cases 2021-12-17 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3
Genome-Nilou Lab RCV002275669 SCV002763259 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468411 SCV002763260 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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