ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=)

gnomAD frequency: 0.00546  dbSNP: rs139086376
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000962785 SCV001109886 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000962785 SCV001145651 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273525 SCV001456662 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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