ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.1386A>G (p.Arg462=)

gnomAD frequency: 0.62509  dbSNP: rs13014906
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521691 SCV001731079 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779240 SCV002016023 benign Infantile liver failure syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779239 SCV002016024 benign Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521691 SCV005240212 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530106 SCV001744742 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001530106 SCV001807846 benign not specified no assertion criteria provided clinical testing

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