ClinVar Miner

Submissions for variant NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.67348  dbSNP: rs8075276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421254 SCV000517617 benign not specified 2015-12-02 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.
Genome-Nilou Lab RCV001775790 SCV002014259 benign Combined oxidative phosphorylation deficiency 34 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064923 SCV002407906 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002064923 SCV005251717 benign not provided criteria provided, single submitter not provided

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