ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile)

gnomAD frequency: 0.00469  dbSNP: rs150207999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116191 SCV000150100 likely benign not specified 2014-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000858030 SCV000291357 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858030 SCV001154200 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ABRAXAS1: BS2
PreventionGenetics, part of Exact Sciences RCV003905109 SCV004723193 likely benign ABRAXAS1-related condition 2019-06-11 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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