ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.3067T>C (p.Tyr1023His)

gnomAD frequency: 0.00266  dbSNP: rs75566418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880493 SCV001023590 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880493 SCV001152091 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing NBAS: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003967978 SCV004795252 likely benign NBAS-related condition 2022-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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