ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.1023-8C>T

gnomAD frequency: 0.09409  dbSNP: rs41306345
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522936 SCV000616557 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.1023-8C>T variant in the MAP2K1 gene is 10.315% (1128/10406) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037587 SCV000061245 benign not specified 2008-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037587 SCV000309169 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000522936 SCV001000165 benign RASopathy 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705634 SCV001158881 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001705634 SCV001861070 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705634 SCV005293004 benign not provided criteria provided, single submitter not provided
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000037587 SCV000207641 benign not specified 2015-01-15 no assertion criteria provided clinical testing

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