ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) (rs759549373)

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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 RCV000578487 SCV000678270 likely pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2018-01-03 no assertion criteria provided clinical testing The observed variant c.10121G>T (p.R3374L) has not been reported in The 1000 Genomes and ExAC databases. The in silico prediction of the variant is probably damaging by PolyPhen2 and damaging by SIFT, LRT and MutationTaster2.

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