ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1099+3A>C

dbSNP: rs1570407965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994046 SCV001147340 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818108 SCV005073407 uncertain significance Retinal dystrophy 2009-01-01 criteria provided, single submitter clinical testing

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