ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)

gnomAD frequency: 0.02065  dbSNP: rs112780453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128022 SCV000171612 benign not specified 2013-10-29 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.
Invitae RCV001512866 SCV001720353 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001512866 SCV002555275 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676843 SCV000802653 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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