ClinVar Miner

Submissions for variant NM_000143.3(FH):c.698G>T (p.Arg233Leu) (rs121913123)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000017624 SCV000537240 likely pathogenic Multiple cutaneous leiomyomas 2017-01-17 criteria provided, single submitter clinical testing
OMIM RCV000017624 SCV000037900 pathogenic Multiple cutaneous leiomyomas 2003-07-01 no assertion criteria provided literature only

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