ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.235G>A (p.Val79Met)

gnomAD frequency: 0.00011  dbSNP: rs371965391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363165 SCV000339416 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487232 SCV002787410 uncertain significance Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000363165 SCV003521841 likely benign not provided 2024-03-18 criteria provided, single submitter clinical testing

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