ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1968+5G>A

dbSNP: rs797044488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000192020 SCV004013912 pathogenic Hutchinson-Gilford syndrome 2023-05-16 criteria provided, single submitter clinical testing PS4, PM2, PP3, PP5
GeneReviews RCV000192020 SCV000196627 not provided Hutchinson-Gilford syndrome no assertion provided literature only
OMIM RCV000190823 SCV000245693 pathogenic Hutchinson-Gilford progeria syndrome, atypical 2015-08-01 no assertion criteria provided literature only

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