ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.448C>T (p.Arg150Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249632 SCV001423596 likely pathogenic Dyskeratosis congenita, autosomal recessive 6 2017-05-31 criteria provided, single submitter clinical testing [ACMG/AMP: PM1, PM2, PS3_Moderate, PP3] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is supported by well-established in vitro or in vivo functional studies to have a damaging effect on protein function or splicing [PS3_Moderate], is predicted to be damaging by multiple functional prediction tools [PP3].

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