ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)

gnomAD frequency: 0.00006  dbSNP: rs768988213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423321 SCV000536429 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000423321 SCV002141626 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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