ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.180G>A (p.Ala60=) (rs185006459)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219755 SCV000268845 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala60Ala in exon 3 of CCDC40: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.6% (25/4002) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs185006459).
PreventionGenetics,PreventionGenetics RCV000219755 SCV000313069 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000461334 SCV000558506 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000219755 SCV000704073 benign not specified 2016-12-29 criteria provided, single submitter clinical testing

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