ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.972C>T (p.Tyr324=)

gnomAD frequency: 0.00003  dbSNP: rs758749502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712676 SCV000727286 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Invitae RCV000652236 SCV000774104 likely benign Tumor predisposition syndrome 3 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019685 SCV001181074 likely benign Hereditary cancer-predisposing syndrome 2018-02-08 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.
Sema4, Sema4 RCV001019685 SCV002527182 likely benign Hereditary cancer-predisposing syndrome 2020-12-29 criteria provided, single submitter curation

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