ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)

gnomAD frequency: 0.00016  dbSNP: rs727504214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154122 SCV000203785 uncertain significance not provided 2014-01-29 criteria provided, single submitter clinical testing
Invitae RCV000154122 SCV001027012 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000154122 SCV004159067 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing VCAN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952757 SCV004774819 likely benign VCAN-related condition 2021-09-17 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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