ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1471-17G>A

gnomAD frequency: 0.00001  dbSNP: rs373324035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001965006 SCV002212670 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001965006 SCV005640596 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-06-16 criteria provided, single submitter clinical testing

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