ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])

dbSNP: rs1555165335
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267581 SCV001445763 likely pathogenic Inborn genetic diseases 2018-10-25 criteria provided, single submitter clinical testing

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