ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln)

gnomAD frequency: 0.00001  dbSNP: rs766512063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317261 SCV000359551 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371873 SCV000359552 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286803 SCV000359553 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341813 SCV000359554 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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