ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3981T>C (p.Asn1327=)

gnomAD frequency: 0.00003  dbSNP: rs527576404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001477794 SCV001682045 likely benign Noonan syndrome 9 2021-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354836 SCV002620805 likely benign Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001477794 SCV002762961 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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