ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.882C>T (p.Ile294=)

gnomAD frequency: 0.00002  dbSNP: rs747668784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756556 SCV000884392 likely benign not provided 2017-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000756556 SCV000984340 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Invitae RCV001469718 SCV001673804 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-01-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323710 SCV004028577 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing

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