ClinVar Miner

Submissions for variant NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)

gnomAD frequency: 0.00160  dbSNP: rs145370736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997868 SCV001153621 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV000997868 SCV001634161 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928652 SCV004738993 likely benign SERPIND1-related condition 2019-10-02 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).

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