ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.1305del (p.Thr436fs)

dbSNP: rs797045028
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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 RCV000191061 SCV000245450 pathogenic Hyaline fibromatosis syndrome 2013-07-08 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a missense variant [S81P] in a 21-year-old female with juvenile hyaline fibromatosis.

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