ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6724G>A (p.Val2242Met)

gnomAD frequency: 0.00008  dbSNP: rs782654096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490278 SCV000267309 uncertain significance Hereditary factor VIII deficiency disease 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000490278 SCV001331853 benign Hereditary factor VIII deficiency disease 2017-10-16 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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