ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1716-10T>G

gnomAD frequency: 0.00001  dbSNP: rs1270971513
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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 RCV001480841 SCV001685169 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481112 SCV004224290 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing PM2

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