ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.53-1G>A

dbSNP: rs1928241490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075307 SCV001240925 likely pathogenic Retinal dystrophy 2017-12-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001727839 SCV001976421 pathogenic Juvenile retinoschisis 2021-09-30 criteria provided, single submitter clinical testing

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