ClinVar for MedGen (Select 412580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954320	NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)	ACTC1, GJD2-DT (S315N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2953358	NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)	ACTC1, GJD2-DT (M285R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2953352	NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)	ACTC1, GJD2-DT (D181N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2952972	NM_005159.5(ACTC1):c.808+8G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2952424	NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)	ACTC1, GJD2-DT (Q310* +2 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2952343	NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)	ACTC1, GJD2-DT (N14D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2951194	NM_005159.5(ACTC1):c.129+10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2951057	NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)	ACTC1, GJD2-DT (G300A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950970	NM_005159.5(ACTC1):c.1A>G (p.Met1Val)	ACTC1, GJD2-DT (M1V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950652	NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)	ACTC1, GJD2-DT (V141L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950438	NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)	ACTC1, GJD2-DT (D213E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950285	NM_005159.5(ACTC1):c.808+18G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2950148	NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)	ACTC1, GJD2-DT (K170N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely pathogenic
Select item 2949091	NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)	ACTC1, GJD2-DT (E29Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2948203	NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)	ACTC1, GJD2-DT (S136T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2947441	NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)	ACTC1, GJD2-DT (L96F +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2947021	NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)	ACTC1, GJD2-DT (V11L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2946707	NM_005159.5(ACTC1):c.852C>T (p.Ile284=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2945429	NM_005159.5(ACTC1):c.789C>T (p.Leu263=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2945285	NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)	ACTC1, GJD2-DT (K193R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944752	NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)	ACTC1, GJD2-DT (G253A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944561	NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)	ACTC1, GJD2-DT (D37N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944475	NM_005159.5(ACTC1):c.991-10_991-8del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2944417	NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)	ACTC1, GJD2-DT (M124I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944157	NM_005159.5(ACTC1):c.24C>T (p.Thr8=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2943996	NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)	ACTC1, GJD2-DT (G15R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942411	NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)	ACTC1, GJD2-DT (N68Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942164	NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)	ACTC1, GJD2-DT (P113A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942146	NM_005159.5(ACTC1):c.337A>C (p.Asn113His)	ACTC1, GJD2-DT (N68H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2941506	NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)	ACTC1, GJD2-DT (A99V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2941291	NM_005159.5(ACTC1):c.616+7G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2940781	NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)	ACTC1, GJD2-DT (S257Y +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2938392	NM_005159.5(ACTC1):c.45C>T (p.Gly15=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2937902	NM_005159.5(ACTC1):c.267C>T (p.His89=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2936878	NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)	ACTC1, GJD2-DT (T60I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2936345	NM_005159.5(ACTC1):c.522C>T (p.Pro174=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2936128	NM_005159.5(ACTC1):c.616+7G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2935933	NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)	ACTC1, GJD2-DT (I36M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2935885	NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)	ACTC1, GJD2-DT (P200S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2935622	NM_005159.5(ACTC1):c.809-58TG[32]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2935506	NM_005159.5(ACTC1):c.455-10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +3 more	GLikely benign
Select item 2934988	NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)	ACTC1, GJD2-DT (A174V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2934757	NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)	ACTC1, GJD2-DT	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2933729	NM_005159.5(ACTC1):c.454+18G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2933321	NM_005159.5(ACTC1):c.648G>A (p.Glu216=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2932696	NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)	ACTC1, GJD2-DT (T106I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2932456	NM_005159.5(ACTC1):c.556del (p.Asp186fs)	ACTC1, GJD2-DT (D141fs +2 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2932282	NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)	ACTC1, GJD2-DT (T122I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2931249	NM_005159.5(ACTC1):c.991-8T>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2930689	NM_005159.5(ACTC1):c.207G>C (p.Leu69=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2930688	NM_005159.5(ACTC1):c.324A>T (p.Thr108=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2929699	NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)	ACTC1, GJD2-DT (A31V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2928750	NM_005159.5(ACTC1):c.300C>G (p.Pro100=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2928681	NM_005159.5(ACTC1):c.579G>A (p.Lys193=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2928030	NM_005159.5(ACTC1):c.129+11C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2927810	NM_005159.5(ACTC1):c.72G>A (p.Ala24=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2927734	NM_005159.5(ACTC1):c.201G>C (p.Leu67=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2927733	NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2926833	NM_005159.5(ACTC1):c.129+15G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2925303	NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)	ACTC1, GJD2-DT (A185V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2925128	NM_005159.5(ACTC1):c.30G>C (p.Leu10=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2925106	NM_005159.5(ACTC1):c.93T>A (p.Ala31=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2924822	NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)	GJD2-DT, ACTC1 (S370C +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2923849	NM_005159.5(ACTC1):c.489C>T (p.His163=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2922253	NM_005159.5(ACTC1):c.990G>A (p.Lys330=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2921885	NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)	ACTC1, GJD2-DT (K272R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2774924	NM_005159.5(ACTC1):c.555G>A (p.Arg185=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2562963	NM_005159.5(ACTC1):c.90C>A (p.Arg30=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 2447971	NM_005159.5(ACTC1):c.438T>C (p.Ala146=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2425304	NC_000015.9:g.(?_34526082)_(35087009_?)del	ACTC1, GJD2 +6 more	Deletion	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2199277	NM_005159.5(ACTC1):c.808+9T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2194074	NM_005159.5(ACTC1):c.990+6G>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2182960	NM_005159.5(ACTC1):c.455-12T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 2170679	NM_005159.5(ACTC1):c.969T>C (p.Ala323=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2166483	NM_005159.5(ACTC1):c.808+20G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2162480	NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)	ACTC1, GJD2-DT (D53N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2157713	NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)	ACTC1, GJD2-DT (P129T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2148458	NM_005159.5(ACTC1):c.312C>G (p.Pro104=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Atrial septal defect 5 +2 more	GLikely benign
Select item 2143344	NM_005159.5(ACTC1):c.130-18C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2137647	NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)	ACTC1, GJD2-DT (A110V +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2129048	NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)	ACTC1, GJD2-DT (Y175F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2122494	NM_005159.5(ACTC1):c.993T>C (p.Ile331=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2116722	NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)	ACTC1, GJD2-DT (V14I +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2107634	NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)	ACTC1, GJD2-DT (L18M)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2107052	NM_005159.5(ACTC1):c.991-2del	ACTC1, GJD2-DT	Deletion (splice acceptor variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2094462	NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)	ACTC1, GJD2-DT (F81I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2083329	NM_005159.5(ACTC1):c.616+5GT[6]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 2078612	NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)	ACTC1, GJD2-DT (V32L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2064160	NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 2057989	NM_005159.5(ACTC1):c.132A>C (p.Gly44=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2055003	NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)	ACTC1, GJD2-DT (T106A +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2051784	NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)	ACTC1, GJD2-DT (P55T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2045899	NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)	ACTC1, GJD2-DT (A21T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 2044985	NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)	ACTC1, GJD2-DT (A28T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2044786	NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)	ACTC1, GJD2-DT (S102C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2044191	NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)	ACTC1, GJD2-DT (M210T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2040294	NM_005159.5(ACTC1):c.195C>T (p.Gly65=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Atrial septal defect 5 +2 more	GLikely benign
Select item 2040110	NM_005159.5(ACTC1):c.129+17G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 2034630	NM_005159.5(ACTC1):c.129+8T>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2033851	NM_005159.5(ACTC1):c.454+13C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign

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