ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1538+95G>A

gnomAD frequency: 0.90064  dbSNP: rs6869718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544070 SCV001763043 benign Neutral 1 amino acid transport defect 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001595103 SCV001829097 benign not provided 2021-05-15 criteria provided, single submitter clinical testing

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