ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.1197C>G (p.Ala399=)

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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 RCV003835037 SCV004639456 likely benign RASopathy 2023-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004585069 SCV005075770 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MAP2K2: PM2:Supporting, BP4, BP7

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