ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.*590dup

dbSNP: rs200554257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400222 SCV000425596 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694519 SCV005188189 uncertain significance not provided criteria provided, single submitter not provided

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