ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)

gnomAD frequency: 0.01875  dbSNP: rs111784356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171365 SCV000221562 likely benign not specified 2016-09-28 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000958677 SCV001105548 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Mendelics RCV000987301 SCV001136564 uncertain significance Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000987301 SCV001307996 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000958677 SCV001884852 benign not provided 2021-02-02 criteria provided, single submitter clinical testing

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