ClinVar Miner

Submissions for variant m.15497G>A (rs199951903)

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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 RCV000434000 SCV000510565 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855307 SCV000998357 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15497G>A (YP_003024038.1:p.Gly251Ser) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2
OMIM RCV000022894 SCV000044185 risk factor Obesity 2003-10-01 no assertion criteria provided literature only

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