ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.942C>T (p.His314=)

gnomAD frequency: 0.00004  dbSNP: rs752875512
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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 RCV000952170 SCV001098650 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102428 SCV001259099 uncertain significance Retinitis pigmentosa 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001102429 SCV001259100 uncertain significance Leber congenital amaurosis 2 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001836036 SCV002092753 likely benign Leber congenital amaurosis 2020-02-17 no assertion criteria provided clinical testing

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