ClinVar Miner

Submissions for variant NC_000008.11:g.22165138del

dbSNP: rs148697295
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000324315 SCV000484329 benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378818 SCV000484330 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270335 SCV000484331 benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692089 SCV001911846 benign not provided 2019-08-10 criteria provided, single submitter clinical testing

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