ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn)

gnomAD frequency: 0.00001  dbSNP: rs760920706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591720 SCV000703436 uncertain significance not provided 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591720 SCV001617925 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing

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