ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)

gnomAD frequency: 0.00004  dbSNP: rs147276536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179542 SCV000231803 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844072 SCV002104008 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054134 SCV002388845 likely benign RASopathy 2023-11-22 criteria provided, single submitter clinical testing

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