ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5707C>T (p.Leu1903=) (rs7719896)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214607 SCV000269018 benign not specified 2015-12-23 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it has been i dentified in 1.4% (142/10388) of African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7719896).
Invitae RCV000230268 SCV000287086 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000230268 SCV001457359 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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