ClinVar Miner

Submissions for variant NC_000001.11:g.206773062T>G

gnomAD frequency: 0.69428  dbSNP: rs1800872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515489 SCV001723576 benign Inflammatory bowel disease 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713173 SCV005281805 benign not provided criteria provided, single submitter not provided
OMIM RCV000018369 SCV000038650 risk factor Susceptibility to HIV infection 2003-12-04 no assertion criteria provided literature only
OMIM RCV000022522 SCV000043811 protective Graft-versus-host disease, resistance to 2003-12-04 no assertion criteria provided literature only
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin RCV003311662 SCV004011742 other Cholangiocarcinoma 2022-12-10 no assertion criteria provided research No association with disease-free or overall survival after resection of intrahepatic Cholangiocarcinoma

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