ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.744C>T (p.Gly248=)

gnomAD frequency: 0.00002  dbSNP: rs768270136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917608 SCV001062893 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000917608 SCV001818438 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495529 SCV002804139 likely benign Mitochondrial complex 4 deficiency, nuclear type 4 2022-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543446 SCV004770158 likely benign SCO1-related disorder 2019-12-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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