ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.1744-10G>A

dbSNP: rs192561043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155793 SCV000205504 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing 1492-10G>A in intron 16 of DTNA: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (18/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs192561043).
GeneDx RCV000155793 SCV000517856 benign not specified 2015-07-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056103 SCV002405075 benign Left ventricular noncompaction 1 2025-01-21 criteria provided, single submitter clinical testing

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