ClinVar Miner

Submissions for variant NM_000302.3(PLOD1):c.[136C>T];[2075C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000202446 SCV000256110 likely pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient 2015-05-20 no assertion criteria provided clinical testing Child with Skeletal Abnormalities, Blue Sclere- Positive, Recently operated for lengthening of right lower limb, X Ray scanogram suggestive of Erlen mayer flask deformity involving the bilateral femori, Flaring of upper shaft of bilateral tibia, Harris lines noted in bilateral lower limb bones, Inversion deformity of the right foot seen, Tibio fibular synostosis seen in the mid part of left leg, Immature skeleton. Both the Variants are predicted to be damaging by SIFT, LRT and Mutation Taster online software.

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