ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)

gnomAD frequency: 0.00070  dbSNP: rs121434382
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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 RCV001102262 SCV001258929 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851577 SCV002190985 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
OMIM RCV000002289 SCV000022447 risk factor MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 2007-04-01 no assertion criteria provided literature only

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