Variants in gene PDZD7 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140	0.00001
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)	rs397516636
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)	rs1025144704

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