ClinVar Miner

Submissions for variant NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)

gnomAD frequency: 0.00285  dbSNP: rs61966074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595945 SCV000706101 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763872 SCV000894807 uncertain significance Bile acid malabsorption, primary, 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000595945 SCV001108224 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000595945 SCV001149079 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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