ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) (rs200918323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521884 SCV000616585 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.291C>A (p.Ile97=) variant in the MAP2K2 gene is 0.182% (23/8614) of East Asian 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)
Invitae RCV000521884 SCV001640434 likely benign Rasopathy 2020-10-30 criteria provided, single submitter clinical testing

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