ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.3361-19A>G

gnomAD frequency: 0.00075  dbSNP: rs201607999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002074055 SCV002011622 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074055 SCV002441480 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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