ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.767C>T (p.Ala256Val)

gnomAD frequency: 0.00024  dbSNP: rs565772648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002104338 SCV002435575 likely benign Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2024-09-16 criteria provided, single submitter clinical testing

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