ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.84G>A (p.Thr28=)

gnomAD frequency: 0.00932  dbSNP: rs61740158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878813 SCV001021786 benign Leber congenital amaurosis 12 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000878813 SCV001254270 benign Leber congenital amaurosis 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000878813 SCV001473523 benign Leber congenital amaurosis 12 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715354 SCV005286959 benign not provided criteria provided, single submitter not provided

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