ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)

dbSNP: rs1554893092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814172 SCV001755650 pathogenic Abnormality of the cardiovascular system 2021-07-10 criteria provided, single submitter clinical testing
Biotechnology Research Center, Pasteur Institute of Iran RCV000625528 SCV000584046 pathogenic Jervell and Lange-Nielsen syndrome 1 no assertion criteria provided research

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