ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.129-34C>G

gnomAD frequency: 0.71770  dbSNP: rs6929520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830810 SCV000972546 benign not provided 2018-06-14 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 RCV001807358 SCV002054774 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-07-15 criteria provided, single submitter clinical testing

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