ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)

dbSNP: rs115459512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438822 SCV000514604 benign not specified 2015-03-24 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 RCV000861161 SCV001001399 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000861161 SCV002554659 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000861161 SCV002809399 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-10-08 criteria provided, single submitter clinical testing

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