Variants in gene PMM2 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)	rs751986971	0.00003
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs)	rs757865122	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)	rs373788015
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)	rs104894530
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	rs958073558
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)	rs1460691341
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	rs1555453238
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085

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