ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.3282T>C (p.His1094=)

gnomAD frequency: 0.00418  dbSNP: rs139891797
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Minimum conflict level:
ClinVar version:
Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974905 SCV001122776 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974905 SCV004138622 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing NBAS: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000974905 SCV005246261 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000974905 SCV001919730 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000974905 SCV001926495 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729773 SCV001977741 benign not specified no assertion criteria provided clinical testing

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