ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*894T>C

gnomAD frequency: 0.20603  dbSNP: rs11103544
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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 RCV000371804 SCV000478628 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718607 SCV005321612 benign not provided criteria provided, single submitter not provided

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