ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.44-35C>T

gnomAD frequency: 0.00001  dbSNP: rs777764569
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975334 SCV001123217 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827064 SCV002090968 likely benign Corneal dystrophy-perceptive deafness syndrome 2020-04-03 no assertion criteria provided clinical testing

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