ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002683853 SCV003720451 uncertain significance Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing The c.3626G>A (p.R1209Q) alteration is located in exon 25 (coding exon 25) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 3626, causing the arginine (R) at amino acid position 1209 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135269 SCV003812999 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003135269 SCV004262073 benign not provided 2023-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003135269 SCV004562725 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003135269 SCV005412543 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing BP4_strong

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