Variants with conflicting interpretations "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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	rs376478015	0.00009
NM_021930.6(RINT1):c.1555C>T (p.Arg519Ter)	rs759853907	0.00004
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	rs864622269	0.00001
NM_021930.6(RINT1):c.1672-1G>C	rs1423003209	0.00001
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	rs748232676
NM_006513.4(SARS1):c.969+1_969+3del	rs2526365201
NM_025137.4(SPG11):c.6477+4A>G	rs312262780

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