ClinVar Miner

Submissions for variant NM_001437.3(ESR2):c.748G>A (p.Gly250Ser)

gnomAD frequency: 0.00017  dbSNP: rs201239439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000933799 SCV001079508 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925814 SCV004745173 benign ESR2-related disorder 2019-05-27 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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