ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2513C>T (p.Thr838Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002780281 SCV003026772 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV002780281 SCV003914777 likely pathogenic not provided 2023-02-08 no assertion criteria provided research

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