ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)

dbSNP: rs1243423373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455243 SCV002617408 likely benign Hereditary cancer-predisposing syndrome 2022-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099612 SCV003521958 likely benign Gorlin syndrome 2022-02-24 criteria provided, single submitter clinical testing

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