ClinVar Miner

Submissions for variant m.1438A>G

dbSNP: rs2001030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035045 SCV000058685 benign not specified 2012-03-08 criteria provided, single submitter clinical testing This variant is found at a high frequency (>90%) in the general population.
GenomeConnect, ClinGen RCV000509092 SCV000607322 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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