ClinVar Miner

Submissions for variant NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro)

gnomAD frequency: 0.00382  dbSNP: rs45584739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003411726 SCV004137544 benign not provided 2022-12-01 criteria provided, single submitter clinical testing SLC28A1: BS1, BS2
OMIM RCV000785742 SCV000924309 affects Uridine-cytidineuria 2019-06-18 no assertion criteria provided literature only

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