ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.450+9G>A

gnomAD frequency: 0.00006  dbSNP: rs375368051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416539 SCV001618721 likely benign RASopathy 2023-03-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813559 SCV002060576 likely benign Noonan syndrome and Noonan-related syndrome 2020-12-29 criteria provided, single submitter clinical testing

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