ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)

gnomAD frequency: 0.00001  dbSNP: rs778915456
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266175 SCV002547717 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Invitae RCV003774842 SCV004634678 likely benign not provided 2023-07-15 criteria provided, single submitter clinical testing

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