ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val)

gnomAD frequency: 0.00001  dbSNP: rs534335166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572540 SCV001797199 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001572540 SCV002159785 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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