ClinVar Miner

Submissions for variant NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)

gnomAD frequency: 0.00251  dbSNP: rs2296651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596418 SCV000707827 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
OMIM RCV001358773 SCV001554649 pathogenic Hypercholanemia, familial, 2 2021-04-07 no assertion criteria provided literature only
OMIM RCV001358774 SCV001554650 protective Hepatitis B virus, resistance to 2021-04-07 no assertion criteria provided literature only

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