ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.239-4dup

dbSNP: rs201864646
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271483 SCV000425456 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000611273 SCV000714125 benign not specified 2017-05-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000958880 SCV001105764 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277036 SCV001463771 benign Retinitis pigmentosa 26 2020-09-16 no assertion criteria provided clinical testing

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