ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro)

dbSNP: rs797045029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191062 SCV000245451 likely pathogenic Hyaline fibromatosis syndrome 2013-07-08 criteria provided, single submitter clinical testing At time of reporting, this variant was novel. Likely pathogenicity based on finding it in trans with a deleterious frameshift variant [T436fs] in a 21-year-old female with juvenile hyaline fibromatosis.

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