ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)

gnomAD frequency: 0.00048  dbSNP: rs143665535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001100287 SCV001256800 likely benign Age related macular degeneration 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001856362 SCV002126923 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001100287 SCV004180640 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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