ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1308G>A (p.Ala436=)

gnomAD frequency: 0.00001  dbSNP: rs147915773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478109 SCV001682367 likely benign Fanconi anemia 2025-01-08 criteria provided, single submitter clinical testing

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