|
NM_133496.5(SLC30A7):c.842+15T>C
|
SNV Germline |
Chr1:100921856 |
Likely pathogenic |
Ziegler-Huang syndrome Testicular atrophy |
Criteria Provided Single Submitter |
CA2580060693 |
rs_2524688991 |
2 SubmittersRCV003326015RCV003222416 |
|
NM_133496.5(SLC30A7):c.785G>A (p.Gly262Asp)
|
SNV Germline |
Chr1:100921784 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA972210 |
rs_140753374 |
2 SubmittersRCV002979748RCV004065288 |
|
NM_133496.5(SLC30A7):c.296+1G>A
|
SNV Germline |
Chr1:100906966 |
Likely pathogenic |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005860830 |