ClinVar Miner

Submissions for variant m.14319T>C

dbSNP: rs199476110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855091 SCV000998138 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14319T>C (YP_003024037.1:p.Asn119Asp) variant in MTND6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4
OMIM RCV000010335 SCV000030561 risk factor Autosomal recessive early-onset Parkinson disease 6 2008-09-01 no assertion criteria provided literature only

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