ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) (rs890872)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296348 SCV000483819 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351311 SCV000483820 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394017 SCV000483821 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311807 SCV000483822 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001516690 SCV001725003 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001662362 SCV001875543 benign Ciliary dyskinesia, primary, 2 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528362 SCV001740000 benign not specified no assertion criteria provided clinical testing

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