ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.514G>A (p.Val172Ile) (rs529408918)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987392 SCV001136680 likely benign Hypochondroplasia 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572765 SCV001797635 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001572765 SCV001809379 likely benign not provided no assertion criteria provided clinical testing

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