ClinVar Miner

Submissions for variant NM_000125.4(ESR1):c.1782G>A (p.Thr594=)

gnomAD frequency: 0.17850  dbSNP: rs2228480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674740 SCV001890571 benign not provided 2018-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15934440, 19636371, 19860576)
Fulgent Genetics, Fulgent Genetics RCV002506722 SCV002796516 likely benign Familial cancer of breast; Estrogen resistance syndrome; Myocardial infarction, susceptibility to; Migraine with or without aura, susceptibility to, 1 2022-03-23 criteria provided, single submitter clinical testing
OMIM RCV001843377 SCV000038338 risk factor Migraine with or without aura, susceptibility to 2004-06-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003975895 SCV004799231 benign ESR1-related disorder 2019-03-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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