ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)

dbSNP: rs1558526097
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Total submissions: 2
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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 RCV000714600 SCV000845310 uncertain significance Zimmermann-Laband syndrome 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714601 SCV000845311 uncertain significance Temple-Baraitser syndrome 2018-08-07 criteria provided, single submitter clinical testing

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