ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.534-13dup

dbSNP: rs567795716
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286842 SCV000439574 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597445 SCV000708544 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV000597445 SCV001040370 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000597445 SCV001154019 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing IMPG2: BP4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787913 SCV000926932 uncertain significance Macular dystrophy 2018-04-01 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001699379 SCV001920816 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699379 SCV001973021 benign not specified no assertion criteria provided clinical testing

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