ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs751764908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335789 SCV001529023 uncertain significance Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2018-02-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005040193 SCV005679924 likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive 2024-04-27 criteria provided, single submitter clinical testing

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