ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1551C>T (p.Gly517=)

gnomAD frequency: 0.10735  dbSNP: rs2289273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717104 SCV001945500 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Invitae RCV001717104 SCV002382688 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003401648 SCV004102837 uncertain significance Associated with severe COVID-19 disease 2023-07-01 no assertion criteria provided research

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