ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2223G>A (p.Leu741=)

gnomAD frequency: 0.62925  dbSNP: rs7590340
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521690 SCV001731078 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001521690 SCV001914719 benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779238 SCV002016019 benign Infantile liver failure syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779237 SCV002016020 benign Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521690 SCV005240066 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528832 SCV001741243 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528832 SCV001808749 benign not specified no assertion criteria provided clinical testing

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