ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu)

dbSNP: rs2033787153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329884 SCV001521435 uncertain significance Gordon syndrome 2019-10-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001329884 SCV002515364 uncertain significance Gordon syndrome 2022-02-01 criteria provided, single submitter clinical testing

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