"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CIRBP"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 712226	NM_001300829.2(CIRBP):c.104-10C>T	CIRBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727266	NM_001300829.2(CIRBP):c.639C>G (p.Ser213=)	CIRBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	ADAMTSL5, APC2 +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance

ClinVar