ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met)

gnomAD frequency: 0.00032  dbSNP: rs145250153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291823 SCV001480446 uncertain significance Neutral 1 amino acid transport defect 2020-05-14 criteria provided, single submitter clinical testing
Invitae RCV002070117 SCV002375004 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing

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