ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) (rs188857186)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665885 SCV000790080 uncertain significance Alstrom syndrome 2017-03-14 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375249 SCV001572047 uncertain significance Complete trisomy 21 syndrome 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
GeneDx RCV001570601 SCV001794923 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 550971; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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