ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=)

gnomAD frequency: 0.00003  dbSNP: rs999773875
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131951 SCV003815472 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003131951 SCV004679355 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing

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