ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.5134-6C>G

gnomAD frequency: 0.00019  dbSNP: rs3214062
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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 RCV000378398 SCV000432580 likely benign Retinitis pigmentosa 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000979613 SCV001127558 benign not provided 2023-12-25 criteria provided, single submitter clinical testing

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