ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.429G>A (p.Lys143=)

gnomAD frequency: 0.00001  dbSNP: rs773264070
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482255 SCV001686617 likely benign RASopathy 2022-11-23 criteria provided, single submitter clinical testing
GeneDx RCV001597280 SCV001830864 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468253 SCV002763580 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468252 SCV002763581 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388019 SCV004099955 likely benign not specified 2023-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037224 SCV005023073 likely benign Cardiovascular phenotype 2022-12-16 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.

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