ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002611170 SCV003504687 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002611169 SCV003703869 uncertain significance Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing The c.1006C>T (p.R336C) alteration is located in exon 8 (coding exon 8) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 1006, causing the arginine (R) at amino acid position 336 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002611170 SCV003812934 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing

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