ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1104C>T (p.Ala368=)

gnomAD frequency: 0.00216  dbSNP: rs6044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888775 SCV001032428 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111145 SCV001268661 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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