ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) (rs150683293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000300236 SCV000342707 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
CFTR-France RCV001009485 SCV001169580 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation

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