ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.220-18G>A

gnomAD frequency: 0.01583  dbSNP: rs35235621
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420970 SCV000512198 benign not specified 2015-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061339 SCV002407624 benign not provided 2025-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259942 SCV002539116 benign Acrokeratosis verruciformis of Hopf 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259941 SCV002539117 benign Keratosis follicularis 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002061339 SCV005231425 benign not provided criteria provided, single submitter not provided

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