ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=)

gnomAD frequency: 0.26684  dbSNP: rs2289274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716779 SCV001939430 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001716779 SCV002471540 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001716779 SCV005239258 benign not provided criteria provided, single submitter not provided
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003401645 SCV004102840 likely risk allele Associated with severe COVID-19 disease 2023-07-01 no assertion criteria provided research The allele G is a risk for non-surviving in patients with severe COVID-19

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