ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)

gnomAD frequency: 0.01248  dbSNP: rs34520315
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 RCV000953103 SCV001099653 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001287971 SCV001474744 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275547 SCV001460787 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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