Variants in gene OPA1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)	rs375733283	0.00002
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)	rs535885178	0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)	rs143929819	0.00001
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)	rs2109014902
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)	rs1553877591
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)	rs1180256773
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)	rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)	rs886043340
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)	rs794727173
NM_130837.3(OPA1):c.1935+3A>G	rs398124300
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)	rs2109139343

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