ClinVar Miner

Submissions for variant NC_012920.1:m.9152T>C

dbSNP: rs878853096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224169 SCV000281476 uncertain significance not provided 2014-10-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854460 SCV000997495 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.9152T>C (YP_003024031.1:p.Ile209Thr) variant in MTATP6 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP6
GenomeConnect, ClinGen RCV000709942 SCV000840302 not provided Mitochondrial-DNA disorder no assertion provided phenotyping only 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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