ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe)

dbSNP: rs397508123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576986 SCV000678872 not provided Jervell and Lange-Nielsen syndrome 1 no assertion provided literature only

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