ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.750A>G

dbSNP: rs2853518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509422 SCV000607321 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.
Genomics Division, Defence Institute of Physiology and Allied Sciences RCV003886405 SCV004698209 association not found Venous thromboembolism no assertion criteria provided case-control Three age and sex matched study groups were taken and whole exome sequencing was performed. 1. Healthy Subjects (n=19) 2. Sea Level Venous Thromboembolism (n=15) 3. High Altitude Venous Thromboembolism (n=6). Nature of this variant is not provided. After analysis, it was found that rs2853518 is present in all study groups. First time it is being reported that there is association of rs28535138 with Venous thromboembolism.

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