ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.893del (p.Lys298fs)

dbSNP: rs2148636494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001795817 SCV002037103 likely pathogenic Infantile liver failure syndrome 2 no assertion criteria provided clinical testing

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