ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1458+1G>A

dbSNP: rs886044526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000357054 SCV000345270 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000357054 SCV004225382 likely pathogenic not provided 2023-01-16 criteria provided, single submitter clinical testing PM2, PVS1

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