ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1237-7C>T (rs376260223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485230 SCV000565755 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing This variant is denoted FH c.1237-7C>T or IVS8-7C>T and consists of a C>T nucleotide substitution at the -7 position of intron 8 of the FH gene. Multiple splice prediction models are uninformative for this variant. In the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FH c.1237-7C>T was observed with an allele frequency of 0.2% (7/4406) in African Americans in the NHLBI Exome Sequencing Project. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether FH c.1237-7C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000485230 SCV000756729 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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