ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) (rs138359497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416105 SCV000493629 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764208 SCV000895211 uncertain significance Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing

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