ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.888G>A (p.Pro296=)

gnomAD frequency: 0.01237  dbSNP: rs16925390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419955 SCV000521524 benign not specified 2016-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872028 SCV001013777 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502516 SCV002806251 likely benign Mitochondrial DNA deletion syndrome with progressive myopathy; Seckel syndrome 8 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000872028 SCV005318862 benign not provided criteria provided, single submitter not provided

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