ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.687C>T (p.Asp229=)

gnomAD frequency: 0.00001  dbSNP: rs1598177104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873048 SCV001014973 likely benign Fanconi anemia 2023-10-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478985 SCV002774152 likely benign not provided 2021-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002478985 SCV004700959 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7

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