ClinVar Miner

Submissions for variant NC_012920.1:m.14743A>G

dbSNP: rs527236161
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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 RCV000133403 SCV004030463 uncertain significance Neoplasm of ovary 2023-08-29 criteria provided, single submitter curation Clinical significance based on ACMG v2.0
Department of Zoology Govt. MVM College RCV000133403 SCV000188417 probable-pathogenic Neoplasm of ovary no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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