ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.571-4dup

dbSNP: rs536197677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264784 SCV000480850 uncertain significance PSAT deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000893744 SCV001037699 benign Neu-Laxova syndrome 2 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922656 SCV004747339 likely benign PSAT1-related condition 2022-06-18 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529794 SCV001743884 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529794 SCV001929251 likely benign not provided no assertion criteria provided clinical testing

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