ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)

gnomAD frequency: 0.99509  dbSNP: rs1516446
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Total submissions: 11
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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 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 Familial thoracic aortic aneurysm and aortic dissection 2014-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812219 SCV000603130 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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
Invitae RCV000986956 SCV001733460 benign Ehlers-Danlos syndrome, type 4 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986956 SCV001821897 benign Ehlers-Danlos syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589110 SCV001821899 benign Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000244220 SCV004363051 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000218509 SCV001744669 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000218509 SCV001807682 benign not specified no assertion criteria provided clinical testing

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