ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.651A>G (p.Ser217=)

gnomAD frequency: 0.00001  dbSNP: rs762892205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003582017 SCV004335245 likely benign Noonan syndrome 8 2023-09-10 criteria provided, single submitter clinical testing

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