ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.798+836C>T (rs876657443)

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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,Partners HealthCare Personalized Medicine RCV000218078 SCV000270072 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing c.799-13C>T in intron 5 of COL11A2: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing.
GenomeConnect, ClinGen RCV000509432 SCV000606915 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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