ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)

gnomAD frequency: 0.00093  dbSNP: rs114404835
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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) RCV000296238 SCV000339864 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV000296238 SCV001728139 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000296238 SCV004146005 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing ABCG8: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000296238 SCV004224888 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003909985 SCV004722312 likely benign ABCG8-related condition 2022-03-17 criteria provided, single submitter 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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