ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)

gnomAD frequency: 0.26688  dbSNP: rs7227022
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243948 SCV000313912 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640570 SCV001857120 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788161 SCV002029779 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788160 SCV002029780 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788159 SCV002029781 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788162 SCV002029782 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001640570 SCV002410468 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640570 SCV005248424 benign not provided criteria provided, single submitter not provided

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