"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EBF4"[g - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783856	NM_001395167.1(EBF4):c.273C>T (p.Ile91=)	EBF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 783857	NM_001395167.1(EBF4):c.492G>T (p.Arg164=)	EBF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance

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