ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)

gnomAD frequency: 0.00005  dbSNP: rs760795047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331862 SCV001524004 uncertain significance Primary ciliary dyskinesia 7 2019-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV003770838 SCV004666320 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing

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