ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.15485C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV003228227 SCV003924383 not provided Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; MELAS syndrome; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-26-2022 by Lab or GTR ID 26957. Heteroplasmy of approximately 30% reported. 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.

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