ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*267C>T

gnomAD frequency: 0.43648  dbSNP: rs12722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292334 SCV000478609 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001530877 SCV001745782 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270231 SCV002554707 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270232 SCV002554708 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530877 SCV005321609 benign not provided criteria provided, single submitter not provided

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