ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.639G>A (p.Lys213=)

dbSNP: rs1673288442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255556 SCV001432029 likely benign not specified 2020-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570592 SCV003248498 likely benign Noonan syndrome 8 2022-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002570592 SCV004050427 likely benign Noonan syndrome 8 2023-04-11 criteria provided, single submitter clinical testing

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