ClinVar Miner

Submissions for variant NM_016103.4(SAR1B):c.480+18del

dbSNP: rs199526981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001619677 SCV001843740 benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495971 SCV002798062 benign Chylomicron retention disease 2022-02-25 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002495971 SCV004812733 benign Chylomicron retention disease 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 47.71% (rs758052630, 28,387/68,696alleles, 88 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1

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