ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.1635+6C>T

gnomAD frequency: 0.01389  dbSNP: rs114910457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV003341582 SCV004049317 benign Radio-Tartaglia syndrome 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919060 SCV004736443 benign SPEN-related disorder 2024-08-12 no assertion criteria provided 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).

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