ClinVar Miner

Submissions for variant NM_004318.4(ASPH):c.2127-2del

gnomAD frequency: 0.00001  dbSNP: rs1200332180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542581 SCV001760217 likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome no assertion criteria provided clinical testing
OMIM RCV001542581 SCV002549756 pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 2024-01-26 no assertion criteria provided literature only

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