ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3366C>T (p.His1122=)

gnomAD frequency: 0.00001  dbSNP: rs771815968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877603 SCV001020365 likely benign Fanconi anemia 2023-12-14 criteria provided, single submitter clinical testing
Mendelics RCV000989670 SCV001140202 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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