ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)

dbSNP: rs1553775828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662186 SCV000784538 uncertain significance Fanconi renotubular syndrome 1 2018-03-05 criteria provided, single submitter clinical testing

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