New variants
/The following pathogenic variants have been added:
c.1024G>A; p.(Glu342Lys); Pathogenic; criteria: PSb, PPa,PPb,PPc
c.6863T>C; p.(Leu2288Ser); Pathogenic; criteria: PSb,PPb,PPc
The following pathogenic variants have been added:
c.1024G>A; p.(Glu342Lys); Pathogenic; criteria: PSb, PPa,PPb,PPc
c.6863T>C; p.(Leu2288Ser); Pathogenic; criteria: PSb,PPb,PPc