ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1936-21G>A

dbSNP: rs77716946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248846 SCV000302154 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000218 SCV001156735 benign Ehlers-Danlos syndrome, classic type 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270092 SCV002554129 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270093 SCV002554130 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718121 SCV005321031 benign not provided criteria provided, single submitter not provided

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