ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys)

dbSNP: rs2124517554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251100 SCV002521506 uncertain significance Noonan syndrome 4 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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