ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)

gnomAD frequency: 0.00023  dbSNP: rs139566676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000368296 SCV000333777 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV001084792 SCV001010482 likely benign Primary ciliary dyskinesia 2023-10-30 criteria provided, single submitter clinical testing

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