ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*733C>A

dbSNP: rs3196378
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265711 SCV000478623 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001378 SCV001158576 benign Ehlers-Danlos syndrome, classic type 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270237 SCV002554713 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270238 SCV002554715 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278632 SCV002565663 benign Ehlers-Danlos syndrome 2022-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718606 SCV005321610 benign not provided criteria provided, single submitter not provided

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