ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2994T>G (p.His998Gln)

gnomAD frequency: 0.00419  dbSNP: rs149853218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000991024 SCV000482097 likely benign Hereditary factor VIII deficiency disease 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103758 SCV000883837 benign not provided 2023-09-07 criteria provided, single submitter clinical testing
Mendelics RCV000991024 SCV001142126 benign Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003103758 SCV005208066 likely benign not provided criteria provided, single submitter not provided

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