ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.5599C>T (p.Pro1867Ser)

gnomAD frequency: 0.00015  dbSNP: rs149044964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984896 SCV002209473 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001984896 SCV005411625 uncertain significance not provided 2024-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001984896 SCV005848353 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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