ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.16T>C (p.Trp6Arg)

gnomAD frequency: 0.00871  dbSNP: rs35649846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878815 SCV001021788 benign Leber congenital amaurosis 12 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000878815 SCV004562937 benign Leber congenital amaurosis 12 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714149 SCV005286962 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700484 SCV001923937 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700484 SCV001963723 benign not specified no assertion criteria provided clinical testing

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