ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=)

gnomAD frequency: 0.00014  dbSNP: rs200760447
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 RCV000944497 SCV001090467 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272055 SCV001453684 benign Corneal dystrophy-perceptive deafness syndrome 2020-05-01 no assertion criteria provided clinical testing

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