ClinVar Miner

Submissions for variant NM_019096.5(GTPBP2):c.1236+1G>A

dbSNP: rs1252019134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000985150 SCV001426557 likely pathogenic Jaberi-Elahi syndrome criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985150 SCV001133142 likely pathogenic Jaberi-Elahi syndrome 2019-09-26 no assertion criteria provided clinical testing

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