ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.561C>T (p.Pro187=)

gnomAD frequency: 0.00001  dbSNP: rs371712806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002507179 SCV002800603 likely benign Mitochondrial complex 4 deficiency, nuclear type 3 2022-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676609 SCV004650720 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676609 SCV000802398 likely benign not provided 2016-02-24 no assertion criteria provided clinical testing

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