ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.15346G>A

dbSNP: rs527236180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV000133422 SCV004030457 likely benign Familial cancer of breast 2023-08-29 criteria provided, single submitter curation Clinical significance based on ACMG v2.0
Department of Zoology Govt. MVM College RCV000133422 SCV000188436 probable-pathogenic Familial cancer of breast no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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