Variants in gene PMS2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)	rs745361721	0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs)	rs886039646	0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)	rs730881915	0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	rs587779337	0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)	rs188006077	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA	rs1782473185
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)	rs200824831
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.353+1G>A	rs113517055
NM_000535.7(PMS2):c.354-2A>G	rs786202098
NM_000535.7(PMS2):c.804-10T>G	rs267608151
NM_000535.7(PMS2):c.903+1G>A	rs1554300689
Single allele

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