ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)

dbSNP: rs763546006
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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 RCV000394508 SCV000470545 uncertain significance Ehlers-Danlos syndrome, arthrochalasia type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307709 SCV000470546 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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