ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1539-67T>C

gnomAD frequency: 0.93561  dbSNP: rs12513763
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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 RCV001544072 SCV001763045 benign Neutral 1 amino acid transport defect 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713009 SCV001941351 benign not provided 2021-05-15 criteria provided, single submitter clinical testing

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