ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.820C>T (p.Leu274=)

dbSNP: rs2040370137
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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 RCV003523085 SCV004329587 likely benign Fanconi anemia 2023-10-09 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256348 SCV001425778 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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