ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.96A>G (p.Ala32=)

gnomAD frequency: 0.00001  dbSNP: rs1555698705
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654994 SCV000776910 likely benign RASopathy 2017-12-22 criteria provided, single submitter clinical testing

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