ClinVar Miner

Submissions for variant NM_153006.3(NAGS):c.916-57T>C

gnomAD frequency: 0.91995  dbSNP: rs228770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543041 SCV001761533 benign Hyperammonemia, type III 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001615263 SCV001839591 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615263 SCV005251143 benign not provided criteria provided, single submitter not provided

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