ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2193-4G>A

gnomAD frequency: 0.06274  dbSNP: rs10048856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358562 SCV000433550 benign Corneal dystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000992992 SCV001145650 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000992992 SCV001725872 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273526 SCV001456663 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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