ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=)

gnomAD frequency: 0.00023  dbSNP: rs201133609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896463 SCV001040552 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272046 SCV001453675 uncertain significance Corneal dystrophy-perceptive deafness syndrome 2020-03-11 no assertion criteria provided clinical testing

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