ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.168+19T>C (rs17842947)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000604437 SCV000852103 benign Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: BA1: MAF=0.44942 in ExAC; BP2: Observed in cis (in the homozygous state) with IVS2+5G>C (P) (PMID:24048906). In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP2).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078514 SCV000110370 benign not specified 2017-05-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078514 SCV000303444 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000604437 SCV000744100 benign Phenylketonuria 2014-10-09 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088845 SCV000119440 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604437 SCV000733126 benign Phenylketonuria no assertion criteria provided clinical testing

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