ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln)

gnomAD frequency: 0.00253  dbSNP: rs114943513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426501 SCV000516810 benign not specified 2015-09-21 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 RCV000972115 SCV001119809 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000972115 SCV002554825 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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