ClinVar Miner

Submissions for variant NM_138982.4(MAPK10):c.960G>A (p.Ala320=)

gnomAD frequency: 0.00350  dbSNP: rs55663953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960845 SCV001107871 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117595 SCV000151822 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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