Total 3 pathogenic variants reported for Kearns-Sayre syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
m.5877C>T	SNV Somatic	ChrMT:5877	Pathogenic	Kearns-Sayre syndrome	No Assertion Criteria Provided	CA254830	rs_118203893	1 SubmittersRCV000010161
NC_012920.1(MT-TK):m.8319A>G	SNV Germline	ChrMT:8319	Conflicting classifications of pathogenicity	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Kearns-Sayre syndrome	Criteria Provided Conflicting Classifications		rs_1603221401	2 SubmittersRCV000850944 RCV002290478