ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.*848T>C

gnomAD frequency: 0.00076  dbSNP: rs72902303
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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 RCV000291902 SCV000425591 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292529 SCV002585850 benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL5A2: BS1, BS2

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