ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4059= (p.Gln1353=) (rs1516446)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218509 SCV000268916 benign not specified 2014-12-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.4059T) is the minor allele. This a llele (T) has been identified in 1.5% (66/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1516446) and thus meets criteria to be classified as benign.
Ambry Genetics RCV000244220 SCV000319290 benign Thoracic aortic aneurysm and aortic dissection 2014-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000218509 SCV000603130 benign not specified 2017-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218509 SCV000705260 benign not specified 2017-01-05 criteria provided, single submitter clinical testing
Mendelics RCV000986956 SCV001136118 benign Ehlers-Danlos syndrome, type 4 2019-05-28 criteria provided, single submitter clinical testing

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