ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2486+1G>A

dbSNP: rs1309140887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625642 SCV000746143 pathogenic Retinitis pigmentosa 38 2017-09-28 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817826 SCV005071124 pathogenic Retinal dystrophy 2019-01-01 no assertion criteria provided clinical testing

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