ClinVar Miner

Submissions for variant NM_001684.5(ATP2B4):c.1122G>A (p.Thr374=)

gnomAD frequency: 0.00240  dbSNP: rs2229564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122806 SCV002408316 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002122806 SCV004124326 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ATP2B4: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002122806 SCV005281670 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003933447 SCV004752622 likely benign ATP2B4-related disorder 2019-07-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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