ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.1858A>T (p.Lys620Ter)

dbSNP: rs2148574197
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784711 SCV002018208 pathogenic not provided 2019-11-07 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004040801 SCV005016593 pathogenic Infantile liver failure syndrome 2 2024-03-14 criteria provided, single submitter clinical testing

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