ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1310A>G (p.Asp437Gly) (rs1554920808)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Akbari laboratory,Tarbiat Modares University RCV000497356 SCV000503038 likely pathogenic Long QT syndrome 1 2017-02-18 no assertion criteria provided research The variant was seen in four Romano-Ward LQTS patients in the two unrelated Iranian families.The genotype of more than 100 unrelated healthy individuals with the same ethnicity were determined but none of them displayed the same variant in either monoallelic or biallelic forms.

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