Variants in gene COL6A1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)	rs1304888945	0.00003
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)	rs794727121
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1056+1del	rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)	rs878854398
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs)	rs1330933906
NM_001848.3(COL6A1):c.2435-2A>G	rs940473416
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)	rs886043354
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	rs398123643
NM_001848.3(COL6A1):c.904-2A>G	rs1057519174
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)	rs794727028
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001848.3(COL6A1):c.930+1G>A	rs886042902
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)	rs886044231

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