ClinVar Miner

Submissions for variant NC_000001.10:g.(?_94520647)_(94520891_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004579049 SCV005066562 pathogenic not provided 2023-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with ABCA4-related conditions (PMID: 33302505). This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the ABCA4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).

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