ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1296+5G>A

dbSNP: rs1553454799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000622651 SCV000740309 likely pathogenic Retinitis pigmentosa 38 2018-02-20 criteria provided, single submitter clinical testing

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