ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*2395G>T

gnomAD frequency: 0.76943  dbSNP: rs4504708
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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 RCV000378221 SCV000478654 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718609 SCV005321614 benign not provided criteria provided, single submitter not provided

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