ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.921C>T (p.Asn307=)

gnomAD frequency: 0.00011  dbSNP: rs370468973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001429080 SCV001631791 likely benign Fanconi anemia 2023-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899969 SCV004712239 likely benign SLX4-related condition 2023-07-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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