ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)

dbSNP: rs1057519963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322604 SCV004027665 likely pathogenic Noonan syndrome 4 2023-05-30 criteria provided, single submitter clinical testing Criteria applied: PS4,PM2_SUP,PP3

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