ClinVar Miner

Submissions for variant NM_024528.4(NKAP):c.370G>A (p.Glu124Lys)

dbSNP: rs2521709809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287240 SCV002577472 uncertain significance Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-08 criteria provided, single submitter clinical testing PM2, PP3

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