ClinVar Miner

Submissions for variant NM_013435.3(RAX):c.197G>C (p.Arg66Thr)

gnomAD frequency: 0.00260  dbSNP: rs536765190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597146 SCV000700736 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085134 SCV001020637 likely benign Isolated microphthalmia 3 2024-11-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085134 SCV001281744 uncertain significance Isolated microphthalmia 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000597146 SCV002504033 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003915689 SCV004734213 likely benign RAX-related disorder 2019-07-30 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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