ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)

gnomAD frequency: 0.00001  dbSNP: rs886038496
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246597 SCV000308288 likely benign not specified criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144179 SCV003834135 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing

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