ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.13492-15T>C (rs192514899)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600919 SCV000711303 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing c.13492-15T>C in intron 77 of DNAH5: This variant is not expected to have clinic al significance because a T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has b een identified in 0.2% (27/16510) of South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC,; dbSNP rs192514899).

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