ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.*72dup (rs1558212305)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SingHealth Duke-NUS Institute of Precision Medicine	RCV000721972	SCV000853121	likely pathogenic	Coenzyme Q10 deficiency, primary 1	2017-06-07	no assertion criteria provided	curation

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