"GeneDx"[submitter] AND "ITCH"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 1308696	NM_031483.7(ITCH):c.679+1G>T	ITCH	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2442485	NM_031483.7(ITCH):c.1116G>T (p.Gln372His)	ITCH (Q262H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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