ClinVar Miner

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

gnomAD frequency: 0.11318  dbSNP: rs2289273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001717104 SCV005239257 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001717104 SCV002382688 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001717104 SCV001945500 benign not provided 2018-11-10 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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