"GeneDx"[submitter] AND "RIC3"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 1412006	NM_177972.3(TUB):c.523C>T (p.Arg175Trp)	TUB, RIC3 (R175W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2662714	NM_177972.3(TUB):c.1519T>G (p.Ter507Glu)	RIC3, TUB	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 253858	GRCh37/hg19 11p15.4(chr11:8060216-8637954)x3	TRIM66, STK33 +3 more	Copy number gain	See cases	GUncertain significance

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