ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)

dbSNP: rs1057519732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680037 SCV000807476 uncertain significance Cardiofaciocutaneous syndrome 3 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 5-year-old male with global delays, dysmorphism, short stature, failure to thrive, strabismus

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