ClinVar Miner

Submissions for variant NM_003235.5(TG):c.3149G>T (p.Trp1050Leu)

gnomAD frequency: 0.00007  dbSNP: rs142124591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Oncology Research Center, Barretos Cancer Hospital RCV001374524 SCV001438667 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002486006 SCV002804071 uncertain significance Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2022-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438738 SCV004163260 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing

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