ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)

gnomAD frequency: 0.00599  dbSNP: rs73946020
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972932 SCV001120662 benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics RCV001265640 SCV001443802 uncertain significance Arthrogryposis, distal, with impaired proprioception and touch 2020-04-10 criteria provided, single submitter research
GeneDx RCV000972932 SCV001776864 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000258011 SCV000328188 uncertain significance autosomal recessive PIEZO2 associated disease 2016-10-07 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000972932 SCV001800427 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727666 SCV001974021 benign not specified no assertion criteria provided clinical testing

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