ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)

gnomAD frequency: 0.00001  dbSNP: rs750100537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978711 SCV001126644 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274997 SCV001459647 likely benign Progressive familial intrahepatic cholestasis type 2 2020-09-16 no assertion criteria provided clinical testing

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