ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=)

gnomAD frequency: 0.00007  dbSNP: rs371041253
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 RCV001403868 SCV001605753 likely benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279885 SCV001467021 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-07-05 no assertion criteria provided clinical testing

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