ClinVar Miner

Submissions for variant NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr)

dbSNP: rs199699574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733025 SCV000861038 benign not specified 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001405921 SCV001607865 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001405921 SCV004143820 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TGFB1: BS2
PreventionGenetics, part of Exact Sciences RCV003947948 SCV004765535 likely benign TGFB1-related disorder 2022-08-31 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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