ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.656-20C>G

dbSNP: rs375940362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002114609 SCV002446414 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500215 SCV002809497 likely benign Mitochondrial complex 4 deficiency, nuclear type 4 2022-01-13 criteria provided, single submitter clinical testing

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