ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.-364G>C

gnomAD frequency: 0.00064  dbSNP: rs780212970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352010 SCV000478487 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488823 SCV002780075 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2022-02-18 criteria provided, single submitter clinical testing

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