ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1647T>C (p.Asn549=)

gnomAD frequency: 0.00064  dbSNP: rs62636283
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283110 SCV000352809 likely benign 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000324209 SCV000352810 likely benign Leber congenital amaurosis 8 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000378808 SCV000352811 likely benign Pigmented paravenous retinochoroidal atrophy 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000086310 SCV000608505 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV001084432 SCV001021254 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000086310 SCV001867520 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Retina International RCV000086310 SCV000118456 not provided not provided no assertion provided not provided

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