ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2992-23A>G

gnomAD frequency: 0.14300  dbSNP: rs76070043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788892 SCV002029702 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788893 SCV002029703 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Mendelics RCV002246505 SCV002518855 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710349 SCV005250251 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003968553 SCV004795215 likely benign PIEZO1-related disorder 2022-06-09 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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