ClinVar Miner

Submissions for variant NM_019616.4(F7):c.740-10T>C

gnomAD frequency: 0.00559  dbSNP: rs3093266
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250246 SCV000302438 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000250246 SCV000331374 likely benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000957295 SCV001104096 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957295 SCV001149100 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing F7: BS2
Illumina Laboratory Services, Illumina RCV001110403 SCV001267834 uncertain significance Factor VII deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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