ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2808C>T (p.Thr936=)

gnomAD frequency: 0.00001  dbSNP: rs775487504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214599 SCV000270080 likely benign not specified 2015-11-05 criteria provided, single submitter clinical testing p.Thr936Thr in exon 39 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/114296 of chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg).
Labcorp Genetics (formerly Invitae), Labcorp RCV003114376 SCV003787702 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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