ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr)

gnomAD frequency: 0.00377  dbSNP: rs141846905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320927 SCV000471202 likely benign Occult macular dystrophy 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 RCV004597788 SCV005093288 benign not provided 2024-07-01 criteria provided, single submitter clinical testing RP1L1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV004597788 SCV005220501 likely benign not provided criteria provided, single submitter not provided

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