ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)

gnomAD frequency: 0.00535  dbSNP: rs115681466
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000086968 SCV000575081 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085684 SCV001091611 benign Leber congenital amaurosis 4 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699038 SCV002050975 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086968 SCV000119221 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001699038 SCV001924148 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086968 SCV001969514 likely benign not provided no assertion criteria provided clinical testing

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