ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.16G>C (p.Ala6Pro)

dbSNP: rs2148537138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Arnesen Lab, University of Bergen RCV001731135 SCV001981511 pathogenic Ogden syndrome criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050398 SCV005683110 uncertain significance Microphthalmia, syndromic 1; Ogden syndrome 2024-05-14 criteria provided, single submitter clinical testing

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