ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.2269-5del

dbSNP: rs5835793
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202717 SCV000257731 benign not specified 2015-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001539607 SCV001757396 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730587 SCV001980784 benign Amelogenesis imperfecta type 1H 2021-08-19 criteria provided, single submitter clinical testing

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