ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2778+12T>C

gnomAD frequency: 0.00006  dbSNP: rs775047268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001949674 SCV002247383 likely benign Fanconi anemia 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492136 SCV002796217 likely benign Fanconi anemia complementation group A 2022-01-05 criteria provided, single submitter clinical testing

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