ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.486C>T (p.Ser162=)

gnomAD frequency: 0.00001  dbSNP: rs2040845636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002163387 SCV002464931 likely benign Fanconi anemia 2023-08-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478949 SCV004218621 likely benign not provided 2023-08-31 criteria provided, single submitter clinical testing

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