ClinVar Miner

Submissions for variant NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro)

dbSNP: rs1164035037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331049 SCV001522966 uncertain significance Mitochondrial complex III deficiency nuclear type 5 2020-10-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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