ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2862A>T (p.Gly954=)

dbSNP: rs1377418572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506022 SCV000603140 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522984 SCV004343491 likely benign Ehlers-Danlos syndrome, type 4 2023-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541581 SCV004780967 likely benign COL3A1-related disorder 2023-10-29 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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