ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) (rs62637631)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492528 SCV000581064 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078464 SCV000110320 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276641 SCV000481248 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204296 SCV000481249 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589777 SCV000696375 benign not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.4080C>T (p.Ser1360Ser) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant affect on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 468/116042 (1/247, 2 homozygotes), which significantly exceeds the expected allele frequency for a pathogenic PTCH1 variant of 1/58479, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have cited the variant as "benign." Therefore, the variant of interest has been classified as Benign.
Invitae RCV000204296 SCV000261833 benign Gorlin syndrome 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078464 SCV000303359 benign not specified criteria provided, single submitter clinical testing

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