ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.366C>T (p.Asn122=)

gnomAD frequency: 0.00001  dbSNP: rs990673168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813666 SCV002060797 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542452 SCV003298324 likely benign RASopathy 2022-06-13 criteria provided, single submitter clinical testing

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