ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr)

gnomAD frequency: 0.00010  dbSNP: rs201950472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503586 SCV000592956 uncertain significance Noonan syndrome 2016-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001431314 SCV001634068 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing

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