ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) (rs547581739)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667571 SCV000792048 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100918 SCV001257464 uncertain significance Usher syndrome, type 2A 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001003275 SCV001257465 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003275 SCV001161358 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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