ClinVar Miner

Submissions for variant NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)

gnomAD frequency: 0.00005  dbSNP: rs387906870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002482902 SCV002790842 uncertain significance Uric acid concentration, serum, quantitative trait locus 1; Blood group, Junior system 2022-03-01 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508777 SCV002818208 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
OMIM RCV000023340 SCV000044631 affects Blood group, Junior system 2012-01-15 no assertion criteria provided literature only
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731313 SCV001984316 uncertain significance not specified 2021-02-07 flagged submission clinical testing

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