Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409382 | SCV000485571 | likely pathogenic | Infantile hypophosphatasia | 2016-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983033 | SCV004800410 | likely pathogenic | ALPL-related condition | 2024-01-23 | criteria provided, single submitter | clinical testing | The ALPL c.61+2T>G variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in ALPL are expected to be pathogenic. This variant is interpreted as likely pathogenic. |