ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=)

gnomAD frequency: 0.00086  dbSNP: rs11568366
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312027 SCV000335774 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000887363 SCV000533837 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000887363 SCV001030917 benign not provided 2024-11-10 criteria provided, single submitter clinical testing

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