ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.77-3351T>C

dbSNP: rs1397591568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802262 SCV002050024 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-03-09 criteria provided, single submitter clinical testing

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