ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.799-13C>T

dbSNP: rs876657443
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Total submissions: 3
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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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000509432 SCV004538936 likely benign not provided 2023-01-13 criteria provided, single submitter clinical testing
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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