ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.702C>T (p.Val234=)

gnomAD frequency: 0.00015  dbSNP: rs199687831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435764 SCV000533233 likely benign not specified 2016-11-08 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 RCV001410596 SCV001612646 likely benign not provided 2023-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488965 SCV002810113 likely benign Mitochondrial complex 4 deficiency, nuclear type 4 2021-08-12 criteria provided, single submitter clinical testing

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