ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3504A>G (p.Pro1168=)

gnomAD frequency: 0.00001  dbSNP: rs748617507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064810 SCV002445665 likely benign RASopathy 2021-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336848 SCV002618705 likely benign Cardiovascular phenotype 2020-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV002468088 SCV002763568 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468087 SCV002763569 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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