ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup)

dbSNP: rs577015120
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860877 SCV001001051 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000989202 SCV001139431 uncertain significance Brain-lung-thyroid syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000860877 SCV001813137 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23430038, 28333917)
CeGaT Center for Human Genetics Tuebingen RCV000860877 SCV003917320 benign not provided 2023-11-01 criteria provided, single submitter clinical testing NKX2-1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003918320 SCV004742003 likely benign NKX2-1-related condition 2020-09-16 criteria provided, single submitter 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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