"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MIR3606 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 529340	NC_000002.12:g.(?_188974470)_(189580480_?)del	COL3A1, COL5A2 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 1593165	NM_000090.4(COL3A1):c.1510-17T>C	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2697295	NM_000090.4(COL3A1):c.1510-12T>C	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1961686	NM_000090.4(COL3A1):c.1510-10C>T	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1119668	NM_000090.4(COL3A1):c.1510-4T>C	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign

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