ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln)

dbSNP: rs1684483227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337057 SCV001530622 likely pathogenic Zimmermann-Laband syndrome 1 2018-08-06 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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