ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter)

dbSNP: rs749976222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171788 SCV001334642 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) RCV003492224 SCV004232457 likely pathogenic Lymphatic malformation 6 2024-01-24 criteria provided, single submitter clinical testing

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