ClinVar Miner

Submissions for variant NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)

gnomAD frequency: 0.00002  dbSNP: rs200282964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597691 SCV000706923 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV003389329 SCV004101391 pathogenic Hypercholanemia, familial, 2 2023-11-07 criteria provided, single submitter clinical testing

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