ClinVar Miner

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

dbSNP: rs890872
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296348 SCV000483819 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351311 SCV000483820 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394017 SCV000483821 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311807 SCV000483822 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001516690 SCV001725003 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662362 SCV001875543 benign Primary ciliary dyskinesia 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528362 SCV001966996 benign not specified no assertion criteria provided clinical testing

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