ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.494_495del (p.Lys165fs)

dbSNP: rs1569546255
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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 RCV000680044 SCV000807483 pathogenic Ogden syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 1-year-old male with global delays, hypotonia, dysmorphisms, microcephaly, short stature, delayed bone age, dilated cardiomyopathy, finger & toe syndactyly

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