ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.696C>T (p.Ser232=)

gnomAD frequency: 0.00003  dbSNP: rs761539527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444476 SCV001647480 likely benign RASopathy 2023-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426101 SCV004141450 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MAP2K2: BP4, BP7

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