ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2457C>A (p.Ala819=)

gnomAD frequency: 0.00001  dbSNP: rs1398103963
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
Eurofins Ntd Llc (ga) RCV000593396 SCV000709613 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593396 SCV002246078 likely benign not provided 2024-02-29 criteria provided, single submitter clinical testing

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