ClinVar Miner

Submissions for variant NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)

gnomAD frequency: 0.00001  dbSNP: rs137853126
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Total submissions: 2
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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 RCV000003063 SCV002577541 pathogenic Chylomicron retention disease 2022-01-18 criteria provided, single submitter clinical testing PM2, PP3, PP5
OMIM RCV000003063 SCV000023221 pathogenic Chylomicron retention disease 2008-01-01 no assertion criteria provided literature only

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