ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val)

dbSNP: rs1553367826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reutter Lab, Institute of Human Genetics, University Hospital Bonn RCV000508609 SCV000301475 uncertain significance Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome no assertion criteria provided research
Reutter Lab, Institute of Human Genetics, University Hospital Bonn RCV000508647 SCV000301476 uncertain significance Infantile liver failure syndrome 2 no assertion criteria provided research

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