ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser)

gnomAD frequency: 0.00004  dbSNP: rs779385536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002267331 SCV002549377 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing 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 RCV002267331 SCV004538212 benign not provided 2023-12-25 criteria provided, single submitter clinical testing

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