Variants with conflicting interpretations "likely pathogenic" from Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) and "uncertain significance" from any submitter

Minimum review status of the submission from Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL):		Collection method of the submission from Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL):
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 3

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)	rs200276550	0.00005
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro)	rs1355321952	0.00001

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