ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1016-31_1016-17del

dbSNP: rs374730949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537042 SCV001753868 benign not provided 2015-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056746 SCV002330922 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-12-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002056746 SCV002554803 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000485782 SCV000567487 benign not specified 2015-10-21 flagged submission 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.

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