ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.141A>G (p.Pro47=)

gnomAD frequency: 0.00001  dbSNP: rs1057524417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429516 SCV000535508 likely benign not provided 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090876 SCV005748367 likely benign Noonan syndrome 8 2024-03-26 criteria provided, single submitter clinical testing

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