Submissions for variant NM_001256715.2(DNAAF3):c.790-14C>T

gnomAD frequency: 0.24759  dbSNP: rs7260371

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244303	SCV000307145	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308690	SCV000414817	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387906	SCV000483835	likely benign	Dilated Cardiomyopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293840	SCV000483836	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348777	SCV000483837	likely benign	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000397875	SCV000483838	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244303	SCV000538797	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000602102	SCV000744930	benign	Primary ciliary dyskinesia 2	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001658201	SCV001881388	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000308690	SCV002368871	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001658201	SCV005206057	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602102	SCV000733930	benign	Primary ciliary dyskinesia 2		no assertion criteria provided	clinical testing