ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3315C>T (p.Ser1105=)

gnomAD frequency: 0.00015  dbSNP: rs183029626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528912 SCV000626419 benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960259 SCV004771936 benign SLX4-related disorder 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Open Variation Database RCV001194840 SCV001364659 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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