ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.534G>C (p.Met178Ile)

gnomAD frequency: 0.00001  dbSNP: rs758827956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002256954 SCV002526642 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002256954 SCV005806248 benign not provided 2024-07-13 criteria provided, single submitter clinical testing

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