ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.2078C>A (p.Ser693Tyr)

gnomAD frequency: 0.00027  dbSNP: rs148445044
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 RCV001907598 SCV002122471 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001907598 SCV005188266 uncertain significance not provided criteria provided, single submitter not provided

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