ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) (rs1057519448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000416440 SCV000992790 likely pathogenic N-terminal acetyltransferase deficiency 2016-03-21 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416440 SCV000494176 pathogenic N-terminal acetyltransferase deficiency no assertion criteria provided research This variant was identified in an individual with developmental delay and cardiomyopathy.

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