ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=)

dbSNP: rs1600561128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932191 SCV001077871 likely benign not provided 2023-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277005 SCV001463735 likely benign Corneal dystrophy-perceptive deafness syndrome 2020-01-03 no assertion criteria provided clinical testing

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