ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser)

gnomAD frequency: 0.00024  dbSNP: rs201245739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312280 SCV000471256 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). 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.
Invitae RCV001522117 SCV001731595 benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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