ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)

gnomAD frequency: 0.00008  dbSNP: rs150069331
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460523 SCV000549118 benign Gorlin syndrome 2023-12-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733153 SCV000861182 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764852 SCV000896008 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013303 SCV001173873 likely benign Hereditary cancer-predisposing syndrome 2021-12-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000733153 SCV001991043 uncertain significance not provided 2019-02-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV001013303 SCV002526824 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-13 criteria provided, single submitter curation

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