ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)

gnomAD frequency: 0.01028  dbSNP: rs1800555
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243384 SCV000303779 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362825 SCV000359191 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268191 SCV000359192 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323169 SCV000359193 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359301 SCV000359194 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000243384 SCV000511915 benign not specified 2017-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000243384 SCV000702406 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085827 SCV000780281 benign not provided 2023-08-01 criteria provided, single submitter clinical testing ABCA4: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085827 SCV001159325 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099675 SCV001256147 likely benign ABCA4-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000085827 SCV001730467 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
OMIM RCV000008336 SCV000028544 risk factor MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 1997-03-01 no assertion criteria provided literature only
Retina International RCV000085827 SCV000117970 not provided not provided no assertion provided not provided

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