ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.625+8249G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003885728 SCV004700220 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DST: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003931354 SCV004741900 likely benign DST-related disorder 2024-03-25 no assertion criteria provided 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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