ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.303C>G (p.Asn101Lys)

dbSNP: rs781871487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center RCV001248845 SCV001193440 uncertain significance Ogden syndrome 2020-04-01 criteria provided, single submitter clinical testing The Asn101Lys variant in NAA10 has not been reported in individuals with disease, and was absent from large population studies. In summary, the Asn101Lys variant meets our criteria to be classified as of uncertain significance based upon segregation studies and absence from controls.

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