ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.5808C>T (p.Asn1936=)

gnomAD frequency: 0.00092  dbSNP: rs141404162
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901138 SCV001045493 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000901138 SCV001926545 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000901138 SCV001967933 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000901138 SCV002035193 likely benign not provided no assertion criteria provided clinical testing

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