ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)

gnomAD frequency: 0.00081  dbSNP: rs143714206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733956 SCV000862063 likely benign not specified 2018-07-04 criteria provided, single submitter clinical testing
Invitae RCV000974651 SCV001122486 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955473 SCV004768181 likely benign COMP-related condition 2020-05-14 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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