ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)

gnomAD frequency: 0.00001  dbSNP: rs61749448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085516 SCV000574770 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075731 SCV001241360 likely pathogenic Retinal dystrophy 2019-05-10 criteria provided, single submitter clinical testing
Retina International RCV000085516 SCV000117653 not provided not provided no assertion provided not provided

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