ClinVar Miner

Submissions for variant NM_000185.4(SERPIND1):c.1164-5T>C

gnomAD frequency: 0.00325  dbSNP: rs73877786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881686 SCV001024876 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881686 SCV005276870 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003940433 SCV004749088 likely benign SERPIND1-related disorder 2024-02-28 no assertion criteria provided 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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