ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.2541G>A (p.Val847=)

gnomAD frequency: 0.00183  dbSNP: rs61734476
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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 RCV000892809 SCV001036711 benign not provided 2018-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957979 SCV004771905 likely benign TPO-related disorder 2019-07-12 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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