ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)

gnomAD frequency: 0.00185  dbSNP: rs61748519
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003888481 SCV000281953 likely benign Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277538 SCV000359215 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332637 SCV000359216 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387042 SCV000359217 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292818 SCV000359218 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085800 SCV001050287 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000085800 SCV001895052 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888481 SCV004705763 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Retina International RCV000085800 SCV000117943 not provided not provided no assertion provided not provided

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