ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.44-8C>G

gnomAD frequency: 0.00099  dbSNP: rs146575952
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 RCV000911940 SCV001057021 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275551 SCV001460791 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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