ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.2374-5dup

dbSNP: rs34269395
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000081350 SCV000311353 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304729 SCV000448216 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359498 SCV000448217 likely benign Stargardt Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264787 SCV000448218 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310545 SCV000448219 likely benign Macular dystrophy, retinal 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000836759 SCV000978605 benign not provided 2018-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000836759 SCV001726626 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000081350 SCV000113281 benign not specified 2013-08-14 no assertion criteria provided clinical testing

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