ClinVar Miner

Submissions for variant NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)

gnomAD frequency: 0.00024  dbSNP: rs199553519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595939 SCV000708392 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763873 SCV000894808 uncertain significance Bile acid malabsorption, primary, 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595939 SCV001037235 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000595939 SCV005409637 uncertain significance not provided 2024-08-05 criteria provided, single submitter clinical testing BP4_moderate
PreventionGenetics, part of Exact Sciences RCV003962724 SCV004786268 likely benign SLC10A2-related disorder 2022-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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