Variants in gene COL6A3 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)	rs34741387	0.00817
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)	rs150165484	0.00131
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)	rs138466455	0.00110
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	rs753966526	0.00006
NM_004369.4(COL6A3):c.8567+2dup	rs776144262	0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)	rs760446904

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