ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.4216T>C

dbSNP: rs1599988
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Total submissions: 5
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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 RCV000853749 SCV000996782 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4216T>C (YP_003024026.1:p.Tyr304His) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
Breakthrough Genomics, Breakthrough Genomics RCV000709875 SCV005277495 benign not provided criteria provided, single submitter not provided
OMIM RCV000010373 SCV000030599 pathogenic Leber optic atrophy 1992-09-30 no assertion criteria provided literature only
GeneReviews RCV000010373 SCV000087256 unknown Leber optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Uncertain significance.
GenomeConnect, ClinGen RCV000709875 SCV000840212 not provided not provided 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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