ClinVar Miner

Submissions for variant NM_014989.5(RIMS1):c.2890A>G (p.Lys964Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231926 SCV001404464 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336225 SCV001529562 uncertain significance Cone-rod dystrophy 7 2018-01-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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