ClinVar Miner

Submissions for variant NM_000264.4(PTCH1):c.1504-8T>C (rs2277184)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262082 SCV000481328 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300940 SCV000481329 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589367 SCV000696369 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.1504-8T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 5281/110876 control chromosomes (329 homozygotes) at a frequency of 0.0476298, which is approximately 2779 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
Invitae RCV000300940 SCV000560043 benign Gorlin syndrome 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248901 SCV000303325 benign not specified criteria provided, single submitter clinical testing

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