ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) (rs375315619)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000427203 SCV000345967 likely pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427203 SCV000510673 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Mendelics RCV000987913 SCV001137406 pathogenic Cholestasis, progressive familial intrahepatic 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000427203 SCV001155111 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001003941 SCV001521454 pathogenic Cholestasis, intrahepatic, of pregnancy 3 2020-02-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID: 20422496, 28776642, 26474921, 25807286, 23022423, 23533021, ClinVar ID: 291252]
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003941 SCV001161915 likely pathogenic Cholestasis, intrahepatic, of pregnancy 3 no assertion criteria provided research

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