ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter)

dbSNP: rs990982191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253560 SCV001429339 likely pathogenic Gordon syndrome 2020-01-27 criteria provided, single submitter clinical testing This variant was identified as homozygous

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