ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.3062del (p.Gly1021fs)

dbSNP: rs1812876043
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001261443 SCV001438740 likely pathogenic Trichorhinophalangeal dysplasia type I 2020-05-19 criteria provided, single submitter clinical testing

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