ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.569-8C>T

dbSNP: rs375614631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605871 SCV000731298 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing c.569-8C>T in intron 5 of MAP2K1: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV003539986 SCV004298490 likely benign RASopathy 2023-01-21 criteria provided, single submitter clinical testing

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