ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.5138+24G>A

gnomAD frequency: 0.53637  dbSNP: rs4668892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001663265 SCV001873503 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779290 SCV002016012 benign Infantile liver failure syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779289 SCV002016013 benign Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001663265 SCV005244151 benign not provided criteria provided, single submitter not provided

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