ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.1214G>C (p.Arg405Pro)

gnomAD frequency: 0.00006  dbSNP: rs200281698
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000456634 SCV000552429 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192560 SCV001360783 likely benign not specified 2024-03-29 criteria provided, single submitter clinical testing

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