ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1471-8C>T

gnomAD frequency: 0.00023  dbSNP: rs201661871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957484 SCV001104290 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726387 SCV001961076 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing PLOD1: PM2, BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000957484 SCV004564589 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2023-01-03 criteria provided, single submitter clinical testing

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