ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6579+3A>G (rs727502976)

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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 RCV000150474 SCV000197660 uncertain significance not specified 2013-10-11 criteria provided, single submitter clinical testing The c.6579+3A>G in DNAH5: This variant has not been previously reported by our l aboratory or in large population studies. This variant occurs in the splice cons ensus sequence outside of the invariant region (+/- 1,2) . Computational tools d o not predict and impact on splicing. However, the accuracy of these tools is un known and therefore, additional evidence is needed to determine the clinical sig nificance of this variant.

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