ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) (rs752823488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726587 SCV000345681 uncertain significance not provided 2016-09-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000314761 SCV000711953 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing p.Thr1702Thr in exon 66 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 4/8516 of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi; dbSNP rs752823488).

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