ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) (rs79344818)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202999 SCV000258099 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202999 SCV000312607 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000202999 SCV000540261 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 363/13006=2.79%
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000202999 SCV000605053 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000020733 SCV000743791 likely benign Shwachman syndrome 2014-10-09 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000020733 SCV000803608 benign Shwachman syndrome 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Shwachman-Diamond syndrome, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
GeneReviews RCV000020733 SCV000041308 benign Shwachman syndrome 2008-07-17 no assertion criteria provided curation Converted during submission to Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000020733 SCV000734573 benign Shwachman syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000020733 SCV000745852 benign Shwachman syndrome 2015-07-21 no assertion criteria provided clinical testing

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