ClinVar Miner

Submissions for variant NM_021615.5(CHST6):c.993G>T (p.Gln331His)

gnomAD frequency: 0.00101  dbSNP: rs140699573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177326 SCV000229173 benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000885002 SCV001028421 benign Macular corneal dystrophy 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000885002 SCV001274538 uncertain significance Macular corneal dystrophy 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.

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