The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA6327326 287165
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) | Likely Benign | nonsyndromic genetic deafness | 2021-04-08 | 1.4 | - | TECTA |
View | NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) | Likely Benign | nonsyndromic genetic deafness | 2020-12-24 | 1.3 | - | TECTA |
View | NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) | Likely Benign | nonsyndromic genetic deafness | 2020-12-24 | 1.2 | - | TECTA |
View | NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) | Likely Benign | nonsyndromic genetic deafness | 2020-12-24 | 1.1 | - | TECTA |
View | NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) | Likely Benign | nonsyndromic genetic deafness | 2019-07-17 | 1.0 | - | TECTA |
Showing 1 to 5 of 5 rows