ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1172G>A (p.Arg391Gln)

gnomAD frequency: 0.11103  dbSNP: rs6046
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250547 SCV000302435 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396014 SCV000382744 benign Factor VII deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391182 SCV000483426 benign Factor X deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV004589510 SCV005081469 benign not provided 2024-03-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV004589510 SCV005232081 benign not provided criteria provided, single submitter not provided
OMIM RCV000012861 SCV000033102 risk factor Myocardial infarction, decreased susceptibility to 2000-09-14 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000250547 SCV001740805 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250547 SCV001954656 benign not specified no assertion criteria provided clinical testing

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