ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) (rs146175329)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959424 SCV001106332 likely benign not provided 2018-02-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332967 SCV001525434 uncertain significance Ciliary dyskinesia, primary, 19 2019-08-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001332967 SCV001688133 likely benign Ciliary dyskinesia, primary, 19 2020-11-11 criteria provided, single submitter clinical testing

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