ClinVar Miner

Submissions for variant NC_000007.14:g.128392274G>A

gnomAD frequency: 0.00938  dbSNP: rs183121204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386090 SCV000484290 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293909 SCV000484291 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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